Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
Open accessPublished version of a preprint
Abstract
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10 families spanning three continents with a profound phenotype of early-life onset allergic immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia with esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, and anaphylaxis. The cases were either sporadic (seven kindreds) or followed an autosomal dominant inheritance pattern (three kindreds). All patients carried monoallelic rare variants in STAT6 and functional studies established their gain-of-function (GOF) phenotype with sustained STAT6 phosphorylation, increased STAT6 target gene expression, and TH2 skewing. Precision treatment with the anti–IL-4Rα antibody, dupilumab, was highly effective improving both clinical manifestations and immunological biomarkers. This study identifies heterozygous GOF variants in STAT6 as a novel autosomal dominant allergic disorder. We anticipate that our discovery of multiple kindreds with germline STAT6 GOF variants will facilitate the recognition of more affected individuals and the full definition of this new primary atopic disorder.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
JAK1 inhibition and IL-4Rα antagonism both lead to suppression of STAT6 activation, thereby reducing downstream type 2-associated inflammatory signalling within the HDM-VSA model.
“These results suggest that JAK1 inhibition and IL-4Rα antagonism both lead to suppression of STAT6 activation 34,35 , thereby reducing downstream type 2-associated inflammatory signalling within the HDM-VSA model.”
From Vascularized human skin assembloids model compartmental skin organization and immune responsiveness in vitro (2026) · cites this paper as [35]
The Results section (‘JAK inhibitors and IL-4Rα monoclonal antibody can be used as potential therapeutics’; page unavailable) reports that ruxolitinib and tofacitinib reduced STAT6 activation and that dupilumab inhibited its IL-4-mediated increase. The paper calls the drugs JAK inhibitors but does not establish that JAK1 inhibition specifically produced the effect. The HDM-VSA interpretation follows the citations in the citing sentence and is not attributed to this source. (LLM, conf=0.82)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
UCSF Chimera—A visualization system for exploratory research and analysis
Pettersen, E. F., Goddard, T. D., Huang, C. C., Couch, G. S., Greenblatt, D. M., Meng, E. C., & Ferrin, T. E. (2004) · Journal of Computational Chemistry · doi:10.1002/jcc.20084 · Cited by 45,260 · see citing works
limma powers differential expression analyses for RNA-sequencing and microarray studies
Ritchie, M. E., Phipson, B., Wu, D., Hu, Y., Law, C. W., Shi, W., & Smyth, G. K. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv007 · Cited by 40,458 · see citing works
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works
SWISS-MODEL: homology modelling of protein structures and complexes
Waterhouse, A. M., Bertoni, M., Bienert, S., Studer, G., Tauriello, G., Gumienny, R., Heer, F. T., de Beer, T., Rempfer, C., Bordoli, L., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky427 · Cited by 13,005 · see citing works
Robust enumeration of cell subsets from tissue expression profiles
Newman, A. M., Liu, C. L., Green, M. R., Gentles, A. J., Feng, W., Xu, Y., Hoang, C. D., Diehn, M., & Alizadeh, A. A. (2015) · Nature Methods · doi:10.1038/nmeth.3337 · Cited by 12,116 · see citing works
Aran, D., Looney, A. P., Liu, L., Wu, E., Fong, V., Hsu, A., Chak, S., Naikawadi, R. P., Wolters, P. J., Abate, A. R., et al. (2019) · Nature Immunology · doi:10.1038/s41590-018-0276-y · Cited by 4,984 · see citing works
COSMIC: the Catalogue Of Somatic Mutations In Cancer
Tate, J. G., Bamford, S., Jubb, H. C., Sondka, Z., Beare, D. M., Bindal, N., Boutselakis, H., Cole, C. G., Creatore, C., Dawson, E., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1015 · Cited by 4,867 · see citing works
Hafemeister, C., & Satija, R. (2019) · Genome Biology · doi:10.1186/s13059-019-1874-1 · Cited by 4,479 · see citing works
SIFT web server: predicting effects of amino acid substitutions on proteins
Sim, N.-L., Kumar, P. N., Hu, J., Henikoff, S., Schneider, G., & Ng, P. C. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks539 · Cited by 2,419 · see citing works
A cross-population atlas of genetic associations for 220 human phenotypes
Sakaue, S., Kanai, M., Tanigawa, Y., Karjalainen, J. M., Kurki, M., Koshiba, S., Narita, A., Konuma, T., Yamamoto, K., Akiyama, M., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00931-x · Cited by 2,296 · see citing works
IgE and mast cells in allergic disease
Galli, S. J., & Tsai, M. (2012) · Nature Medicine · doi:10.1038/nm.2755 · Cited by 1,799 · see citing works
Stat6 Is Required for Mediating Responses to IL-4 and for the Development of Th2 Cells
Kaplan, M. H., Schindler, U., Smiley, S. T., & Grusby, M. J. (1996) · Immunity · doi:10.1016/s1074-7613(00)80439-2 · Cited by 1,629 · see citing works
Essential role of Stat6 in IL-4 signalling
Takeda, K., Tanaka, T., Shi, W., Matsumoto, M., Minami, M., Kashiwamura, S.-I., Nakanishi, K., Yoshida, N., Kishimoto, T., & Akira, S. (1996) · Nature · doi:10.1038/380627a0 · Cited by 1,557 · see citing works
Dupilumab Treatment in Adults with Moderate-to-Severe Atopic Dermatitis
Beck, L. A., Thaçi, D., Hamilton, J. D., Graham, N. M. H., Bieber, T. R. M., Rocklin, R. E., Ming, J. E., Ren, H., Kao, R., Simpson, E. L., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1314768 · Cited by 1,415 · see citing works
Lack of IL-4-induced Th2 response and IgE class switching in mice with disrupted Stat6 gene
Shimoda, K., van Deursent, J., Sangster, M. Y., Sarawar, S. R., Carson, R. T., Tripp, R. A., Chu, C., Quelle, F. W., Nosaka, T., Vignali, D. A. A., et al. (1996) · Nature · doi:10.1038/380630a0 · Cited by 1,278 · see citing works
Chen, Y., Lun, A. T. L., & Smyth, G. K. (2016) · F1000Research · doi:10.12688/f1000research.8987.2 · Cited by 1,247 · see citing works
Ihle, J. N. (1995) · Nature · doi:10.1038/377591a0 · Cited by 1,235 · see citing works
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.042 · Cited by 1,224 · see citing works
Mechanisms and consequences of Jak–STAT signaling in the immune system
Villarino, A. V., Kanno, Y., & O'Shea, J. J. (2017) · Nature Immunology · doi:10.1038/ni.3691 · Cited by 1,221 · see citing works
Self-citationDetection and interpretation of shared genetic influences on 42 human traits
Pickrell, J. K., Berisa, T., Liu, J. Z., Ségurel, L., Tung, J. Y., & Hinds, D. A. (2016) · Nature Genetics · doi:10.1038/ng.3570 · Cited by 1,151 · see citing works
JAK and STAT Signaling Molecules in Immunoregulation and Immune-Mediated Disease
O’Shea, J. J., & Plenge, R. M. (2012) · Immunity · doi:10.1016/j.immuni.2012.03.014 · Cited by 1,146 · see citing works
Self-citationSensory Neurons Co-opt Classical Immune Signaling Pathways to Mediate Chronic Itch
Oetjen, L. K., Mack, M. R., Feng, J., Whelan, T. M., Niu, H., Guo, C. J., Chen, S., Trier, A. M., Xu, A. Z., Tripathi, S. V., et al. (2017) · Cell · doi:10.1016/j.cell.2017.08.006 · Cited by 1,092 · see citing works
Monaco, G., Lee, B., Xu, W., Mustafah, S., Hwang, Y. Y., Carré, C., Burdin, N., Visan, L., Ceccarelli, M., Poidinger, M., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.01.041 · Cited by 958 · see citing works
Densely Interconnected Transcriptional Circuits Control Cell States in Human Hematopoiesis
Novershtern, N., Subramanian, A., Lawton, L. N., Mak, R. H., Haining, W. N., McConkey, M. E., Habib, N., Yosef, N., Chang, C. Y., Shay, T., et al. (2011) · Cell · doi:10.1016/j.cell.2011.01.004 · Cited by 942 · see citing works
Leveraging Polygenic Functional Enrichment to Improve GWAS Power
Kichaev, G., Bhatia, G., Loh, P.-R., Gazal, S., Burch, K., Freund, M. K., Schoech, A., Pasaniuc, B., & Price, A. L. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.008 · Cited by 926 · see citing works
Moderated statistical tests for assessing differences in tag abundance
Robinson, M. D., & Smyth, G. K. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btm453 · Cited by 856 · see citing works
New insights into the multidimensional concept of macrophage ontogeny, activation and function
Ginhoux, F., Schultze, J. L., Murray, P. J., Ochando, J., & Biswas, S. K. (2015) · Nature Immunology · doi:10.1038/ni.3324 · Cited by 832 · see citing works
Lundberg, M., Eriksson, A., Tran, B., Assarsson, E., & Fredriksson, S. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr424 · Cited by 744 · see citing works
Tuning the Cytokine Responses: An Update on Interleukin (IL)-4 and IL-13 Receptor Complexes
Junttila, I. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.00888 · Cited by 687 · see citing works
The Polygenic and Monogenic Basis of Blood Traits and Diseases
Vuckovic, D., Bao, E. L., Akbari, P., Lareau, C. A., Mousas, A., Jiang, T., Chen, M.-H., Raffield, L. M., Tardaguila, M., Huffman, J. E., et al. (2020) · Cell · doi:10.1016/j.cell.2020.08.008 · Cited by 671 · see citing works
Production, concentration and titration of pseudotyped HIV-1-based lentiviral vectors
Kutner, R. H., Zhang, X., & Reiser, J. (2009) · Nature Protocols · doi:10.1038/nprot.2009.22 · Cited by 670 · see citing works
Chen, M.-H., Raffield, L. M., Mousas, A., Sakaue, S., Huffman, J. E., Moscati, A., Trivedi, B., Jiang, T., Akbari, P., Vuckovic, D., et al. (2020) · Cell · doi:10.1016/j.cell.2020.06.045 · Cited by 661 · see citing works
Rentzsch, P., Schubach, M., Shendure, J., & Kircher, M. (2021) · Genome Medicine · doi:10.1186/s13073-021-00835-9 · Cited by 640 · see citing works
The Transcription Factor GATA3 Is Essential for the Function of Human Type 2 Innate Lymphoid Cells
Mjösberg, J., Bernink, J. H., Golebski, K., Karrich, J. J., Peters, C. P., Blom, B., Velde, A. A. T., Fokkens, W. J., van Drunen, C. M., & Spits, H. (2012) · Immunity · doi:10.1016/j.immuni.2012.08.015 · Cited by 638 · see citing works
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Gómez, M. L., Becerra, J. C. A., Ouachée-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., et al. (2016) · Blood · doi:10.1182/blood-2015-11-679902 · Cited by 578 · see citing works
Self-citationMechanisms of Jak/STAT Signaling in Immunity and Disease
Villarino, A. V., Kanno, Y., Ferdinand, J. R., & O’Shea, J. J. (2014) · The Journal of Immunology · doi:10.4049/jimmunol.1401867 · Cited by 554 · see citing works
Self-citationShared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
23andMe Research Team, Ferreira, M. A., collaborators, A., BIOS consortium, Study, L. C., Vonk, J. M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J. D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3985 · Cited by 550 · see citing works
Démenais, F., Margaritte‐Jeannin, P., Barnes, K. C., Cookson, W., Altmüller, J., Ang, W., Barr, R. G., Beaty, T. H., Becker, A. B., Beilby, J. P., et al. (2017) · Nature Genetics · doi:10.1038/s41588-017-0014-7 · Cited by 535 · see citing works
Self-citationIdentification of a T follicular helper cell subset that drives anaphylactic IgE
Gowthaman, U., Chen, J., Zhang, B., Flynn, W. F., Lu, Y., Song, W., Joseph, J., Gertie, J. A., Xu, L., Collet, M. A., et al. (2019) · Science · doi:10.1126/science.aaw6433 · Cited by 471 · see citing works
Kuperman, D. A., Schofield, B., Wills-Karp, M. A., & Grusby, M. J. (1998) · The Journal of Experimental Medicine · doi:10.1084/jem.187.6.939 · Cited by 446 · see citing works
Transcriptional regulation by STAT6
Goenka, S., & Kaplan, M. H. (2011) · Immunologic Research · doi:10.1007/s12026-011-8205-2 · Cited by 426 · see citing works
Topical tofacitinib for atopic dermatitis: a phase II a randomized trial
Bissonnette, R., Papp, K. A., Poulin, Y. P., Gooderham, M., Raman, M., Mallbris, L., Wang, C., Purohit, V. S., Mamolo, C. M., Papacharalambous, J., et al. (2016) · British Journal of Dermatology · doi:10.1111/bjd.14871 · Cited by 420 · see citing works
Burden and socioeconomics of asthma, allergic rhinitis, atopic dermatitis and food allergy
Dierick, B. J. H., van der Molen, T., Blok, B. M. J. F.-D., Muraro, A. M., Postma, M. J., Kocks, J. W. H., & van Boven, J. F. M. (2020) · Expert Review of Pharmacoeconomics & Outcomes Research · doi:10.1080/14737167.2020.1819793 · Cited by 385 · see citing works
Pividori, M., Schoettler, N., Nicolae, D. L., Ober, C., & Im, H. K. (2019) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(19)30055-4 · Cited by 345 · see citing works
Zhu, Z., Guo, Y., Shi, H., Liu, C.-L., Panganiban, R. A. M., Chung, W., O’Connor, L. J., Himes, B. E., Gazal, S., Hasegawa, K., et al. (2019) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2019.09.035 · Cited by 344 · see citing works
Dupilumab in Children with Uncontrolled Moderate-to-Severe Asthma
Bacharier, L. B., Maspero, J. F., Katelaris, C. H., Fiocchi, A. G., Gagnon, R., Messa, I. D. M., Jain, N., Sher, L. D., Mao, X., Liu, D., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2106567 · Cited by 310 · see citing works
Akimoto, T., Numata, F., Tamura, M., Takata, Y., Higashida, N., Takashi, T., Takeda, K., & Akira, S. (1998) · The Journal of Experimental Medicine · doi:10.1084/jem.187.9.1537 · Cited by 305 · see citing works
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct
Ferreira, M. A. R., Mathur, R., Vonk, J. M., Szwajda, A., Brumpton, B. M., Granell, R., Brew, B. K., Ullemar, V., Lu, Y., Jiang, Y., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.02.022 · Cited by 305 · see citing works
Uzel, G., Sampaio, E. P., Lawrence, M. G., Hsu, A. P., Hackett, M. J., Dorsey, M. J., Noel, R. J., Verbsky, J. W., Freeman, A. F., Janssen, E., et al. (2013) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2012.11.054 · Cited by 301 · see citing works
Exome Sequencing and the Management of Neurometabolic Disorders
Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1515792 · Cited by 281 · see citing works
Self-citationRequirements for Interleukin-4-Induced Gene Expression and Functional Characterization of Stat6
Mikita, T., Campbell, D., Wu, P., Williamson, K., & Schindler, U. (1996) · Molecular and Cellular Biology · doi:10.1128/mcb.16.10.5811 · Cited by 271 · see citing works
Australian Asthma Genetics Consortium (AAGC), Bønnelykke, K., the EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium, Matheson, M. C., Pers, T. H., Granell, R., Strachan, D. P., Alves, A. C., Linneberg, A., Curtin, J. A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2694 · Cited by 244 · see citing works
Self-citationModerate-to-severe asthma in individuals of European ancestry: a genome-wide association study
Shrine, N. R. G., Portelli, M. A., John, C., Artigas, M. S., Bennett, N., Hall, R., Lewis, J., Henry, A. P., Billington, C. K., Ahmad, A., et al. (2018) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(18)30389-8 · Cited by 244 · see citing works
GWAS identifies four novel eosinophilic esophagitis loci
Abou‐Sleiman, P. M., Wang, M., Cianferoni, A., Aceves, S. S., Gonsalves, N. P., Nadeau, K. C., Bredenoord, A. J., Furuta, G. T., Spergel, J. M., & Hakonarson, H. H. (2014) · Nature Communications · doi:10.1038/ncomms6593 · Cited by 241 · see citing works
Zhu, Z., Lee, P. H., Chaffin, M. D., Chung, W., Loh, P., Lu, Q., Christiani, D. C., & Liang, L. (2018) · Nature Genetics · doi:10.1038/s41588-018-0121-0 · Cited by 235 · see citing works
Self-citationJatiani, S., Baker, S. J., Silverman, L. R., & Reddy, E. P. (2010) · Genes & Cancer · doi:10.1177/1947601910397187 · Cited by 228 · see citing works
Treatment of atopic dermatitis with ruxolitinib cream (JAK1/JAK2 inhibitor) or triamcinolone cream
Kim, B. S., Howell, M. D., Sun, K., Papp, K., Nasir, A., & Kuligowski, M. E. (2020) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2019.08.042 · Cited by 226 · see citing works
Mogensen, T. H. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2018.03047 · Cited by 225 · see citing works
Han, Y., Jia, Q., Jahani, P. S., Hurrell, B. P., Pan, C., Huang, P., Gukasyan, J., Woodward, N. C., Eskin, E., Gilliland, F. D., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15649-3 · Cited by 222 · see citing works
TGFβ Receptor Mutations Impose a Strong Predisposition for Human Allergic Disease
Frischmeyer‐Guerrerio, P. A., Guerrerio, A. L., Oswald, G. L., Chichester, K. L., Myers, L. A., Halushka, M. K., Oliva‐Hemker, M. M., Wood, R. A., & Dietz, H. C. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3006448 · Cited by 218 · see citing works
Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review
Fabre, A., Marchal, S., Barlogis, V., Mari, B. P., Barbry, P., Rohrlich, P., Forbes, L. R., Vogel, T. P., & Giovannini‐Chami, L. (2019) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2019.02.018 · Cited by 194 · see citing works
Interleukin-4 and interleukin-13 cause barrier dysfunction in human airway epithelial cells
Saatian, B., Rezaee, F., DeSando, S. A., Emo, J. A., Chapman, T., Knowlden, S. A., & Georas, S. N. (2013) · Tissue Barriers · doi:10.4161/tisb.24333 · Cited by 190 · see citing works
Béziat, V., Li, J., Lin, J., Ma, C. S., Li, P., Bousfiha, A. A., Pellier, I., Zoghi, S., Barış, S., Keleş, S., et al. (2018) · Science Immunology · doi:10.1126/sciimmunol.aat4956 · Cited by 190 · see citing works
Self-citationThe transcription factor XBP1 is selectively required for eosinophil differentiation
Bettigole, S. E., Lis, R., Adoro, S., Lee, A., Spencer, L. A., Weller, P. F., & Glimcher, L. H. (2015) · Nature Immunology · doi:10.1038/ni.3225 · Cited by 187 · see citing works
DOCK8 deficiency: Insights into pathophysiology, clinical features and management
Biggs, C. M., Keles, S., & Chatila, T. A. (2017) · Clinical Immunology · doi:10.1016/j.clim.2017.06.003 · Cited by 178 · see citing works
Self-citationZhu, Z., Zhu, X. D., Liu, C.-L., Shi, H., Shen, S., Yang, Y., Hasegawa, K., Camargo, C. A., & Liang, L. (2019) · European Respiratory Journal · doi:10.1183/13993003.01507-2019 · Cited by 175 · see citing works
Matsukura, S., Stellato, C., Georas, S. N., Casolaro, V., Plitt, J. R., Miura, K., Kurosawa, S., Schindler, U., & Schleimer, R. P. (2001) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/ajrcmb.24.6.4351 · Cited by 168 · see citing works
Waage, J., collaborators, A., Standl, M., Curtin, J. A., Jessen, L. E., Thorsen, J., Tian, C., Schoettler, N., Flores, C., Abdellaoui, A., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0157-1 · Cited by 167 · see citing works
A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study
Granada, M., Wilk, J. B., Tuzova, M. N., Strachan, D. P., Weidinger, S., Albrecht, E., Gieger, C., Heinrich, J., Himes, B. E., Hunninghake, G. M., et al. (2011) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2011.09.029 · Cited by 162 · see citing works
Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank
Valette, K., Li, Z., Bon-Baret, V., Chignon, A., Bérubé, J., Eslami, A., Lamothe, J., Gaudreault, N., Joubert, P., Obeidat, M., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02227-6 · Cited by 162 · see citing works
Bel, K. L. D., Ragotte, R. J., Saferali, A., Lee, S., Vercauteren, S., Mostafavi, S., Schreiber, R. A., Prendiville, J., Phang, M. S., Halparin, J., et al. (2017) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.12.957 · Cited by 157 · see citing works
Self-citationElo, L. L., Järvenpää, H., Tuomela, S., Raghav, S. K., Ahlfors, H., Laurila, K., Gupta, B., Lund, R., Tahvanainen, J., Hawkins, R. D., et al. (2010) · Immunity · doi:10.1016/j.immuni.2010.06.011 · Cited by 155 · see citing works
Johansson, Å., Rask‐Andersen, M., Karlsson, T., & Ek, W. E. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz175 · Cited by 152 · see citing works
Activating STAT6 mutations in follicular lymphoma
Yildiz, M., Li, H., Bernard, D., Amin, N. A., Ouillette, P. D., Jones, S., Saiya-Cork, K., Parkin, B. L., Jacobi, K., Shedden, K., et al. (2014) · Blood · doi:10.1182/blood-2014-06-582650 · Cited by 149 · see citing works
Cutaneous Manifestations of DOCK8 Deficiency Syndrome
Chu, E. Y. (2011) · Archives of Dermatology · doi:10.1001/archdermatol.2011.262 · Cited by 147 · see citing works
Predominance of Th2 polarization by Vitamin D through a STAT6-dependent mechanism
Sloka, S., Silva, C., Wang, J., & Yong, V. W. (2011) · Journal of Neuroinflammation · doi:10.1186/1742-2094-8-56 · Cited by 141 · see citing works
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Béziat, V., Tavernier, S. J., Chen, Y., Ma, C. S., Materna, M., Laurence, A. D. J., Staal, J., Aschenbrenner, D., Roels, L., Worley, L., et al. (2020) · The Journal of Experimental Medicine · doi:10.1084/jem.20191804 · Cited by 134 · see citing works
Self-citationGruber, C. N., Calis, J. J. A., Buta, S., Evrony, G. D., Martin, J. C., Uhl, S. A., Caron, R., Jarchin, L., Dunkin, D., Phelps, R. G., et al. (2020) · Immunity · doi:10.1016/j.immuni.2020.07.006 · Cited by 133 · see citing works
Medoff, B., Seung, E., Hong, S., Thomas, S. Y., Sandall, B. P., Duffield, J., Kuperman, D., Erle, D., & Luster, A. (2009) · Journal of Immunology · doi:10.4049/jimmunol.182.1.623 · Cited by 131 · see citing works
The STAT5b Pathway Defect and Autoimmunity
Kanai, T., Jenks, J. A., & Nadeau, K. C. (2012) · Frontiers in Immunology · doi:10.3389/fimmu.2012.00234 · Cited by 130 · see citing works
Recurrent mutations of the STAT6 DNA binding domain in primary mediastinal B-cell lymphoma
Ritz, O., Guiter, C., Castellano, F., Dorsch, K., Melzner, J., Jaïs, J., Dubois, G., Gaulard, P., Mӧller, P., & Leroy, K. (2009) · Blood · doi:10.1182/blood-2009-03-209759 · Cited by 124 · see citing works
Tomkinson, A., Kanehiro, A., Rabinovitch, N., Joetham, A., Cieslewicz, G., & Gelfand, E. W. (1999) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.160.4.9809065 · Cited by 122 · see citing works
JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition
Luo, Y., Alexander, M. T., Gadina, M., O’Shea, J. J., Meylan, F., & Schwartz, D. M. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.08.004 · Cited by 121 · see citing works
Self-citationInterleukin 13 and its role in gut defence and inflammation
Mannon, P., & Reinisch, W. (2012) · Gut · doi:10.1136/gutjnl-2012-303461 · Cited by 119 · see citing works
Ma, C. A., Xi, L., Cauff, B. E., DeZure, A. D., Freeman, A. F., Hambleton, S., Kleiner, G., Leahy, T. R., O’Sullivan, M. J., Makiya, M. A., et al. (2016) · Blood · doi:10.1182/blood-2016-09-737817 · Cited by 113 · see citing works
Self-citationLyons, J. J., & Milner, J. D. (2018) · The Journal of Experimental Medicine · doi:10.1084/jem.20172306 · Cited by 111 · see citing works
Self-citationLemonnier, N., Melén, E., Jiang, Y., Joly, S., Ménard, C., Aguilar, D., Acosta‐Pérez, E., Bergström, A., Boutaoui, N., Bustamante, M., et al. (2020) · Allergy · doi:10.1111/all.14314 · Cited by 109 · see citing works
Olafsdottir, T. A., Theódórs, F., Bjarnadóttir, K., Björnsdóttir, U. S., Agustsdottir, A. B., Stefánsson, Ó. A., Ivarsdottir, E. V., Sigurdsson, J. K., Benónísdóttir, S., Eyjolfsson, G. I., et al. (2020) · Nature Communications · doi:10.1038/s41467-019-14144-8 · Cited by 98 · see citing works
Daya, M., Rafaels, N. M., Brunetti, T. M., Chavan, S., Levin, A. M., Shetty, A., Gignoux, C. R., Boorgula, M. P., Wojcik, G. L., Campbell, M., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-08469-7 · Cited by 95 · see citing works
Béziat, V., Rapaport, F., Hu, J., Titeux, M., Bonnet des Claustres, M., Bourgey, M., Griffin, H., Bandet, É., Ma, C. S., Sherkat, R., et al. (2021) · Cell · doi:10.1016/j.cell.2021.06.004 · Cited by 95 · see citing works
Self-citationSnapShot: Jak-STAT Signaling II
Villarino, A. V., Gadina, M., O’Shea, J. J., & Kanno, Y. (2020) · Cell · doi:10.1016/j.cell.2020.04.052 · Cited by 85 · see citing works
Self-citationDifferentiation into an Effector Memory Phenotype Potentiates HIV-1 Latency Reversal in CD4+T Cells
Kulpa, D. A., Talla, A., Brehm, J. H., Ribeiro, S. P., Yuan, S., Bebin-Blackwell, A.-G., Miller, M. D., Barnard, R., Deeks, S. G., Hazuda, D. J., et al. (2019) · Journal of Virology · doi:10.1128/jvi.00969-19 · Cited by 84 · see citing works
Rapaport, F., Boisson, B., Gregor, A., Béziat, V., Boisson‐Dupuis, S., Bustamante, J. C., Jouanguy, E., Puel, A., Rosain, J., Zhang, Q., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2001248118 · Cited by 84 · see citing works
Self-citationShahin, T., Aschenbrenner, D., Çağdaş, D., Bal, S., Conde, C. D., Garncarz, W., Medgyesi, D., Schwerd, T., Karaatmaca, B., Cetinkaya, P. G., et al. (2018) · Haematologica · doi:10.3324/haematol.2018.194233 · Cited by 84 · see citing works
Chandesris, M., Azarine, A., Ong, K.-T., Taleb, S., Boutouyrie, P., Mousseaux, É., Romain, M., Bozec, E., Laurent, S., Boddaert, N., et al. (2011) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.111.961235 · Cited by 76 · see citing works
An Update on Syndromes with a Hyper-IgE Phenotype
Bergerson, J., & Freeman, A. F. (2018) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2018.08.007 · Cited by 76 · see citing works
Milner, J. D. (2020) · Annual Review of Immunology · doi:10.1146/annurev-immunol-042718-041553 · Cited by 76 · see citing works
Bruns, H. A., Schindler, U., & Kaplan, M. H. (2003) · The Journal of Immunology · doi:10.4049/jimmunol.170.7.3478 · Cited by 75 · see citing works
JAKs, STATs and signal transduction in response to the interferons and other cytokines
Briscoe, J., Guschin, D. Y., Rogers, N. C., Watling, D., Müller, K., Heinrich, P. C., Horn, F., Stark, G. R., Kerr, I. M., Karin, M., et al. (1996) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.1996.0013 · Cited by 74 · see citing works
Eight novel susceptibility loci and putative causal variants in atopic dermatitis
Tanaka, N., Koido, M., Suzuki, A., Otomo, N., Suetsugu, H., Kochi, Y., Tomizuka, K., Momozawa, Y., Kamatani, Y., Ikegawa, S., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.04.019 · Cited by 74 · see citing works
Structural basis for DNA recognition by STAT6
Li, J., Rodriguez, J. P., Niu, F., Pu, M., Wang, J., Hung, L., Shao, Q., Zhu, Y., Ding, W., Liu, Y., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1611228113 · Cited by 70 · see citing works
Self-citationKachuri, L., Jeon, S., DeWan, A. T., Metayer, C., Ma, X., Witte, J. S., Chiang, C. W. K., Wiemels, J. L., & de Smith, A. J. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.08.004 · Cited by 70 · see citing works
Human hyper-IgE syndrome: singular or plural?
Zhang, Q., Boisson, B., Béziat, V., Puel, A., & Casanova, J.-L. (2018) · Mammalian Genome · doi:10.1007/s00335-018-9767-2 · Cited by 67 · see citing works
Self-citationA Gain-of-function Mutation in STAT6
Daniel, C., Salvekar, A., & Schindler, U. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.c000129200 · Cited by 65 · see citing works
Hyper-IgE syndrome, 2021 update
Minegishi, Y. (2021) · Allergology International · doi:10.1016/j.alit.2021.07.007 · Cited by 63 · see citing works
Chovanec, J., Tunc, I., Hughes, J., Halstead, J., Mateja, A., Liu, Y., O’Connell, M. P., Kim, J., Park, Y. H., Wang, Q., et al. (2023) · Blood Advances · doi:10.1182/bloodadvances.2022007936 · Cited by 62 · see citing works
Self-citationA germline STAT6 gain-of-function variant is associated with early-onset allergies
Suratannon, N., Ittiwut, C., Dik, W. A., Ittiwut, R., Meesilpavikkai, K., Israsena, N., Ingrungruanglert, P., Dalm, V. A. S. H., van Daele, P. L. A., Sanpavat, A., et al. (2022) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2022.09.028 · Cited by 62 · see citing works
Inborn errors of immunity manifesting as atopic disorders
Vaseghi‐Shanjani, M., Smith, K. L., Sara, R., Modi, B. P., Branch, A., Sharma, M., Lu, H. Y., James, E. L., Hildebrand, K. J., Biggs, C. M., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.08.008 · Cited by 61 · see citing works
Self-citationHuman STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance
Asano, T., Khourieh, J., Zhang, P., Rapaport, F., Spaan, A. N., Li, J., Lei, W., Pelham, S. J., Hum, D., Chrabieh, M., et al. (2021) · The Journal of Experimental Medicine · doi:10.1084/jem.20202592 · Cited by 61 · see citing works
Self-citationSpolski, R. J., Gromer, D. J., & Leonard, W. J. (2017) · F1000Research · doi:10.12688/f1000research.12202.1 · Cited by 61 · see citing works
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Campbell, T. M., Liu, Z., Zhang, Q., Moncada‐Vélez, M., Covill, L., Zhang, P., Darazam, I. A., Bastard, P., Bizien, L., Bucciol, G., et al. (2022) · The Journal of Experimental Medicine · doi:10.1084/jem.20220202 · Cited by 58 · see citing works
Self-citationIL-4 induces serine phosphorylation of the STAT6 transactivation domain in B lymphocytes
Wick, K. R., & Berton, M. T. (2000) · Molecular Immunology · doi:10.1016/s0161-5890(00)00088-2 · Cited by 56 · see citing works
Age-of-onset information helps identify 76 genetic variants associated with allergic disease
Ferreira, M. A. R., Vonk, J. M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J., Helmer, Q., Tillander, A., Ullemar, V., Lu, Y., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008725 · Cited by 53 · see citing works
Liao, M., Xu, J., Clair, A. J., Ehrman, B., Graham, L. M., & Eagleton, M. J. (2011) · Journal of Surgical Research · doi:10.1016/j.jss.2011.05.041 · Cited by 44 · see citing works
Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency
Lu, H. Y., Sharma, M., Sharma, A., Lacson, A. G., Szpurko, A., Luider, J. M., Dharmani‐Khan, P., Shameli, A., Bell, P. A., Guilcher, G. M. T., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.04.006 · Cited by 35 · see citing works
Self-citationEosinophilic Esophagitis in Children: Endoscopic Findings at Diagnosis and Post-intervention
Bolton, S. M., Kagalwalla, A. F., & Wechsler, J. B. (2018) · Current Gastroenterology Reports · doi:10.1007/s11894-018-0607-z · Cited by 33 · see citing works
The exomic landscape of t(14;18)‐negative diffuse follicular lymphoma with 1p36 deletion
Zamò, A., Pischimarov, J., Horn, H., Ott, G., Rosenwald, A., & Leich, E. (2017) · British Journal of Haematology · doi:10.1111/bjh.15041 · Cited by 30 · see citing works
Multiethnic genome-wide and HLA association study of total serum IgE level
Daya, M., Cox, C., Acevedo, N., Boorgula, M. P., Campbell, M., Chavan, S., Cho, M. H., David, G. L., Kachroo, P., Lasky-Su, J. A., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.09.011 · Cited by 26 · see citing works
Self-citationGain-of-function STAT1 mutations are associated with intracranial aneurysms
Dadak, M., Jacobs, R., Škuljec, J., Jirmo, A. C., Yildiz, Ö., Donnerstag, F. G. F., Baerlecken, N. T., Schmidt, R. E., Lanfermann, H., Skripuletz, T., et al. (2017) · Clinical Immunology · doi:10.1016/j.clim.2017.01.012 · Cited by 20 · see citing works
Sharma, M., Fu, M. P., Lu, H. Y., Sharma, A., Modi, B. P., Michalski, C., Lin, S. X., Dalmann, J., Salman, A., Bel, K. L. D., et al. (2022) · Blood · doi:10.1182/blood.2022015674 · Cited by 19 · see citing works
Self-citationThe Child with Elevated IgE and Infection Susceptibility
Freeman, A. F., & Milner, J. D. (2020) · Current Allergy and Asthma Reports · doi:10.1007/s11882-020-00964-y · Cited by 15 · see citing works
STAT6 and the regulation of CD23 expression in B-chronic lymphocytic leukemia
Kneitz, C., Goller, M., Seggewiss, R., Yaman, A., Serfling, E., & Tony, H. (2000) · Leukemia Research · doi:10.1016/s0145-2126(99)00191-5 · Cited by 14 · see citing works
Kim, Y., Kwon, E.-K., Jeon, J., So, I., Kim, I.-G., Choi, M., Kim, I.-S., Choi, J.-K., Jung, J. U., & Cho, N. (2011) · Journal of General Virology · doi:10.1099/vir.0.036087-0 · Cited by 14 · see citing works
Fung, S., Lu, H. Y., Sharma, M., Sharma, A., Saferali, A., Jia, A., Abraham, L., Klein, T., Gold, M. R., Noterangelo, L. D., et al. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.749794 · Cited by 14 · see citing works
Self-citationHebert, A., Simons, A., Schuurs-Hoeijmakers, J. H. M., Koenen, H. J. P. M., Zonneveld‐Huijssoon, E., Henriet, S., Schatorjé, E. J. H., Hoppenreijs, E., Leenders, E. K. S. M., Janssen, E. J. M., et al. (2022) · eLife · doi:10.7554/elife.78469 · Cited by 13 · see citing works
Self-citationDaSilva‐Arnold, S. C., Thyagarajan‐Sahu, A., Seymour, L. J., Yi, Q., Bradish, J. R., Al‐Hassani, M., Zhou, H., Perdue, N. J., Nemeth, V., Krbanjevic, A., et al. (2018) · Archives of Dermatological Research · doi:10.1007/s00403-018-1807-y · Cited by 12 · see citing works
Molecular Diagnostic Outcomes from 700 Cases
Murrell, J. R., Nesbitt, A. M. I., Baker, S. W., Pechter, K. B., Balciuniene, J., Zhao, X., Denenberg, E. H., DeChene, E. T., Wu, C., Jayaraman, P., et al. (2022) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2021.12.002 · Cited by 11 · see citing works
Self-citationSulczewski, F. B., Martino, L. A., Almeida, B. D. S., Yamamoto, M. M., Rosa, D. S., & Boscardin, S. B. (2021) · Current Research in Immunology · doi:10.1016/j.crimmu.2021.08.001 · Cited by 8 · see citing works
Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count
Höglund, J., Hadizadeh, F., Ek, W. E., Karlsson, T., & Johansson, Å. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.862255 · Cited by 6 · see citing works
Flagged first, then by citations
1 of the 130 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Poli, M. C., Aksentijevich, I. A., Bousfiha, A. A., Cunningham‐Rundles, C., Hambleton, S., Klein, C., Morio, T., Pïcard, C., Puel, A., Rezaei, N., et al. (2025) · Journal of Human Immunity · doi:10.70962/jhi.20250003 · Cited by 354 · see citing works
Self-citationSensory Neurons Promote Immune Homeostasis in the Lung
Tamari, M., Bel, K. L. D., Heul, A. V., Zamidar, L., Orimo, K., Hoshi, M., Trier, A. M., Yano, H., Yang, T.-L., Biggs, C. M., et al. (2022) · Cell · doi:10.1016/j.cell.2023.11.027 · Cited by 133 · see citing works
Self-citationSamra, S., Bergerson, J., Freeman, A. F., & Turvey, S. E. (2024) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2024.09.020 · Cited by 96 · see citing works
Self-citationKim, B., Rothenberg, M. E., Sun, X., Bachert, C., Artis, D., Zaheer, R. S., Deniz, Y. M., Rowe, P., & Cyr, S. L. (2023) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2023.08.017 · Cited by 95 · see citing works
Ott, N., Faletti, L. E., Heeg, M., Andreani, V., & Grimbacher, B. (2023) · Journal of Clinical Immunology · doi:10.1007/s10875-023-01483-x · Cited by 87 · see citing works
The ins and outs of innate and adaptive type 2 immunity
Molofsky, A. B., & Locksley, R. M. (2023) · Immunity · doi:10.1016/j.immuni.2023.03.014 · Cited by 72 · see citing works
The Evolution, Immunopathogenesis and Biomarkers of Type 2 Inflammation in Common Allergic Disorders
Gao, Y., Wang, Z., Öğülür, İ., Li, S., Yazıcı, D., Li, X., Pat, Y., Zheng, Y., Babayev, H., Zeyneloglu, C., et al. (2025) · Allergy · doi:10.1111/all.16620 · Cited by 72 · see citing works
The ups and downs of STAT3 function: too much, too little and human immune dysregulation
Mackie, J., Ma, C. S., Tangye, S. G., & Guérin, A. (2023) · Clinical & Experimental Immunology · doi:10.1093/cei/uxad007 · Cited by 47 · see citing works
The Th17/IL-17 Axis and Host Defense Against Fungal Infections
Tangye, S. G., & Puel, A. (2023) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2023.04.015 · Cited by 48 · see citing works
Self-citationAutosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
Minskaia, E., Maimaris, J., Jenkins, P., Albuquerque, A. S., Hong, Y., Eleftheriou, D., Gilmour, K. C., Grace, R., Moreira, F., Grimbacher, B., et al. (2023) · Journal of Clinical Immunology · doi:10.1007/s10875-023-01530-7 · Cited by 45 · see citing works
Self-citationHuman germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond
Sharma, M., Suratannon, N., Leung, D., Barış, S., Takeuchi, I., Samra, S., Yanagi, K., Duque, J. S. R., Benamar, M., Bel, K. L. D., et al. (2024) · Trends in Immunology · doi:10.1016/j.it.2023.12.003 · Cited by 45 · see citing works
Self-citationGenetic/Environmental Contributions and Immune Dysregulation in Children with Atopic Dermatitis
Chong, A. C., Visitsunthorn, K., & Ong, P. Y. (2022) · Journal of Asthma and Allergy · doi:10.2147/jaa.s293900 · Cited by 48 · see citing works
Successful treatment of JAK1-associated inflammatory disease
Fayand, A., Hentgen, V., Posseme, C., Lacout, C., Pïcard, C., Moguelet, P., Cescato, M., Sbeih, N., Moreau, T., Zhu, Y. Y. J., et al. (2023) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2023.06.004 · Cited by 39 · see citing works
Casanova, J. (2025) · Journal of Human Immunity · doi:10.70962/jhi.20250001 · Cited by 34 · see citing works
Self-citationThe Microbe, the Infection Enigma, and the Host
Casanova, J., & Abel, L. (2024) · Annual Review of Microbiology · doi:10.1146/annurev-micro-092123-022855 · Cited by 32 · see citing works
Self-citationMechanisms and therapeutic prospect of the JAK-STAT signaling pathway in liver cancer
Jia, J., Zhou, X. J., & Chu, Q. (2024) · Molecular and Cellular Biochemistry · doi:10.1007/s11010-024-04983-5 · Cited by 31 · see citing works
Update on inborn errors of immunity
IJspeert, H., Edwards, E. S. J., O’Hehir, R. E., Dalm, V. A. S. H., & van Zelm, M. C. (2024) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2024.12.1075 · Cited by 29 · see citing works
Update on the genetics of allergic diseases
Lawson, L. P., Parameswaran, S., Panganiban, R. A. M., Constantine, G. M., Weirauch, M. T., & Kottyan, L. C. (2025) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2025.03.012 · Cited by 27 · see citing works
Kostova, P., Papochieva, V. E., Miteva, D. S., Georgieva, B., Mileva, S., Shahid, M., Lukanov, T., & Petrova, G. (2023) · Antibodies · doi:10.3390/antib12040070 · Cited by 26 · see citing works
JAK / STAT defects and immune dysregulation, and guiding therapeutic choices
Chaimowitz, N. S., Smith, M. R., & Satter, L. F. (2024) · Immunological Reviews · doi:10.1111/imr.13312 · Cited by 26 · see citing works
TH2-driven manifestations of inborn errors of immunity
James, A. E., Abdalgani, M., Khoury, P., Freeman, A. F., & Milner, J. D. (2024) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2024.05.007 · Cited by 23 · see citing works
Self-citationCellular and molecular basis of proximal small intestine disorders
Bildstein, T., Charbit‐Henrion, F., Azabdaftari, A., Cerf–Bensussan, N., & Uhlig, H. H. (2024) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-024-00962-9 · Cited by 23 · see citing works
Vorsteveld, E. E., van der Made, C. I., Smeekens, S. P., Schuurs-Hoeijmakers, J. H. M., Astuti, G., Diepstra, H., Gilissen, C., Hoenselaar, E., Janssen, A., van Roozendaal, K. E. P., et al. (2024) · Clinical Immunology · doi:10.1016/j.clim.2024.110375 · Cited by 23 · see citing works
Self-citationSaito, H., Tamari, M., Motomura, K., Ikutani, M., Nakae, S., Matsumoto, K., & Morita, H. (2024) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2024.09.023 · Cited by 20 · see citing works
Golinska, M. A., Wołyniak, M., Kulesza, P., & Fendler, W. M. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1621178 · Cited by 18 · see citing works
Inborn errors of immunity: A field without frontiers
Bucciol, G., Delafontaine, S., Meyts, I., & Poli, M. C. (2023) · Immunological Reviews · doi:10.1111/imr.13297 · Cited by 18 · see citing works
Self-citationNeuroimmune mechanisms of type 2 inflammation in the skin and lung
Tamari, M., & Ver Heul, A. M. (2025) · Allergology International · doi:10.1016/j.alit.2025.02.001 · Cited by 17 · see citing works
The genetics of hyper IgE syndromes
AlYafie, R. S., Velayutham, D., van Panhuys, N., & Jithesh, P. V. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1516068 · Cited by 16 · see citing works
Primary atopic disorders: inborn errors of immunity causing severe allergic disease
Vaseghi‐Shanjani, M., Samra, S., Yousefi, P., Biggs, C. M., & Turvey, S. E. (2025) · Current Opinion in Immunology · doi:10.1016/j.coi.2025.102538 · Cited by 15 · see citing works
Self-citationPharmacological targeting of the JAK–STAT pathway: new concepts and emerging indications
Haikarainen, T., Virtanen, A. T., Cravatt, B. F., & Silvennoinen, O. (2026) · Nature Reviews Drug Discovery · doi:10.1038/s41573-025-01336-9 · Cited by 17 · see citing works
Giancotta, C., Colantoni, N., Pacillo, L., Santilli, V., Amodio, D., Manno, E. C., Cotugno, N., Rotulo, G. A., Rivalta, B., Finocchi, A., et al. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1129249 · Cited by 14 · see citing works
Self-citationLiongue, C., Sobah, M. L., & Ward, A. C. (2023) · Biomedicines · doi:10.3390/biomedicines12010045 · Cited by 14 · see citing works
Genetic and Molecular Contributors in Eosinophilic Esophagitis
Sato, H., Osonoi, K., Sharlin, C. S., & Shoda, T. (2023) · Current Allergy and Asthma Reports · doi:10.1007/s11882-023-01075-0 · Cited by 14 · see citing works
Toth, K. A., Schmitt, E. G., & Cooper, M. A. (2023) · The Journal of Immunology · doi:10.4049/jimmunol.2200905 · Cited by 13 · see citing works
Atopic manifestations of inborn errors of immunity
Sams, L. A., Wijetilleka, S., Ponsford, M., Gennery, A. R., & Jolles, S. R. A. (2023) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000000943 · Cited by 13 · see citing works
IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency
Gruber, C. N., Lee, A. E., Buta, S., Khattri, S., Gottlieb, A. B., Frost, J., Bowcock, A. M., Ho, H.-E., & Bogunovic, D. (2023) · Journal of Clinical Immunology · doi:10.1007/s10875-023-01635-z · Cited by 12 · see citing works
Taietti, I., Catamerò, F., Lodi, L., Giovannini, M., & Castagnoli, R. (2025) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000001059 · Cited by 12 · see citing works
Arnau‐Soler, A., Ashley, S., Ghauri, A., Jeanrenaud, A. C. S. N., Marenholz, I., Blümchen, K., Cibin, P., Iakupova, A., Hübner, N., Beyer, K., et al. (2025) · Allergy · doi:10.1111/all.16627 · Cited by 12 · see citing works
T-helper-2 cells and atopic disease: lessons learnt from inborn errors of immunity
Ma, C. S. (2023) · Current Opinion in Immunology · doi:10.1016/j.coi.2023.102298 · Cited by 12 · see citing works
IL‐4/IL‐13 pathway in nasal type 2 inflammation: The central role and targeted therapy
Zhu, Z., Zhao, C., & Wang, M. (2024) · Eye & ENT Research · doi:10.1002/eer3.5 · Cited by 11 · see citing works
Interplay between epigenetic and genetic alterations in inborn errors of immunity
Rodríguez‐Ubreva, J., Calvillo, C. L., Satter, L. F., & Ballestar, E. (2023) · Trends in Immunology · doi:10.1016/j.it.2023.09.005 · Cited by 11 · see citing works
Anaphylaxis biomarkers: present and future
Pampura, A. N., Esakova, N. V., Zimin, S., & Filippova, E. (2024) · European Annals of Allergy and Clinical Immunology · doi:10.23822/eurannaci.1764-1489.350 · Cited by 10 · see citing works
Kim, K. C., Jeong, G. H., Bang, C. H., & Lee, J. H. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252413539 · Cited by 10 · see citing works
Self-citationAtopic dermatitis and lymphoma risk: a systematic review and meta-analysis
Tian, Y., Li, Y., Yang, C., Yuan, G., Peng, B., Su, L., & Wu, J. (2025) · Frontiers in Oncology · doi:10.3389/fonc.2025.1580550 · Cited by 9 · see citing works
Transcription factor defects in inborn errors of immunity with atopy
Vaseghi‐Shanjani, M., Yousefi, P., Sharma, M., Samra, S., Sifuentes, E., Turvey, S. E., & Biggs, C. M. (2023) · Frontiers in Allergy · doi:10.3389/falgy.2023.1237852 · Cited by 9 · see citing works
Self-citationWu, Z., Lian, G., He, L., Hu, P., Guo, Y., & Su, Z. (2026) · Immunology and Cell Biology · doi:10.1111/imcb.70078 · Cited by 8 · see citing works
Genetic landscape of atopic dermatitis
Paternoster, L. (2024) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000001005 · Cited by 8 · see citing works
Faguer, S., Delabesse, É., Paul, C. F., & Pasquet, M. (2023) · Journal of Clinical Immunology · doi:10.1007/s10875-023-01639-9 · Cited by 8 · see citing works
Regulation of eosinophil recruitment and heterogeneity during allergic airway inflammation
Graf, L.-M., Radtke, D., & Voehringer, D. (2025) · Frontiers in Allergy · doi:10.3389/falgy.2025.1585142 · Cited by 7 · see citing works
Selected inborn errors of immunity associated with severe atopic phenotypes
Bellanti, J. A. (2025) · Annals of Allergy Asthma & Immunology · doi:10.1016/j.anai.2025.05.024 · Cited by 7 · see citing works
Cardinale, F., Taietti, I., Sgrulletti, M., Pacillo, L., Moschese, V., Cancrini, C., Badolato, R., del Giudice, M. M., Marseglia, G. L., Chiappini, E., et al. (2025) · Pediatric Allergy and Immunology · doi:10.1111/pai.70225 · Cited by 7 · see citing works
Self-citationKeeping up with recent developments in immunodeficiency
Tsoulis, M. W., & Williams, K. W. (2024) · Annals of Allergy Asthma & Immunology · doi:10.1016/j.anai.2024.12.016 · Cited by 7 · see citing works
Loss of tolerance to dietary proteins: From mouse models to human model diseases
Levescot, A., & Cerf–Bensussan, N. (2024) · Immunological Reviews · doi:10.1111/imr.13395 · Cited by 8 · see citing works
Svetina, M., Kunej, T., Korošec, P., & Rijavec, M. (2025) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-025-09069-8 · Cited by 6 · see citing works
Common variable immunodeficiency, cross currents, and prevailing winds
Romberg, N. D., & Coz, C. L. (2023) · Immunological Reviews · doi:10.1111/imr.13291 · Cited by 6 · see citing works
Rao, G., Mack, C. D., Nguyen, T., Wong, N. S. M., Payne, K. J., Worley, L., Gray, P. E., Wong, M., Hsu, P. S., Stormon, M., et al. (2024) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2024.11.031 · Cited by 6 · see citing works
Self-citationSTATs, promising targets for the treatment of autoimmune and inflammatory diseases
He, X., Liu, P., Luo, Y., Fu, X.-Y., & Yang, T. (2024) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2024.116783 · Cited by 5 · see citing works
Tangye, S. G., Mackie, J., Pathmanandavel, K., & Ma, C. S. (2023) · Immunological Reviews · doi:10.1111/imr.13288 · Cited by 5 · see citing works
Precision care in the treatment of pediatric asthma
Mahmood, L. Z., Keskin, S., & Jefferson, A. A. (2024) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000001343 · Cited by 5 · see citing works
Samra, S., Cook, E., Wilson, J., Sharma, M., Golding, L., Yao, D. T., Marsh, R. A., & Turvey, S. E. (2025) · Journal of Allergy and Clinical Immunology Global · doi:10.1016/j.jacig.2025.100494 · Cited by 4 · see citing works
Self-citationSzczawińska-Popłonyk, A. (2025) · Immunologic Research · doi:10.1007/s12026-025-09708-4 · Cited by 4 · see citing works
Selective Targeting of STAT6: Recent Advances and Future Perspectives
Liu, H., Ma, F., Wang, Z., Li, Z. A., Bian, J., Yuan, Z., & Wu, T. (2026) · Medicinal Research Reviews · doi:10.1002/med.70069 · Cited by 4 · see citing works
NGS data analysis for molecular diagnosis of Inborn Errors of Immunity
Yang, X., Yang, W., & Lau, Y. (2024) · Seminars in Immunology · doi:10.1016/j.smim.2024.101901 · Cited by 4 · see citing works
Self-citationMa, C. S., & Tangye, S. G. (2023) · Clinical & Experimental Immunology · doi:10.1093/cei/uxad039 · Cited by 4 · see citing works
Learning while treating: Gain-of-function STAT6 variants in severe allergic disease
Smith, T., & Doherty, T. A. (2023) · Cell Reports Medicine · doi:10.1016/j.xcrm.2023.101040 · Cited by 4 · see citing works
STAT6 joins the gain-of-function club
Chen, K., Ochs, H. D., & Allenspach, E. J. (2023) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2023.05.003 · Cited by 4 · see citing works
Gut mucosal immune responses – implications for celiac disease and food allergy
Abadie, V. (2025) · Seminars in Immunology · doi:10.1016/j.smim.2025.101984 · Cited by 3 · see citing works
Inborn errors of immunity with atopic phenotype: what we know so far
Taietti, I., Cenzato, F., Brambilla, I., Marseglia, G. L., Licari, A., & Castagnoli, R. (2025) · Expert Review of Clinical Immunology · doi:10.1080/1744666x.2025.2575361 · Cited by 3 · see citing works
Eosinophilic Esophagitis: Mechanisms of Disease and Approach to Treatment
Gautam, R., & Ruffner, M. A. (2026) · Current Allergy and Asthma Reports · doi:10.1007/s11882-026-01253-w · Cited by 5 · see citing works
Human germline biallelic loss-of-function OSMR variants cause severe allergic disease
Samra, S., Sharma, M., Körholz, J., Liu, Y., James, A. E., Michalski, C., Yousefi, P., Bel, K. L. D., Lu, H. Y., Sharma, A. A., et al. (2026) · Journal of Human Immunity · doi:10.70962/jhi.20260067 · Cited by 3 · see citing works
Self-citationNot just another klass (JAK) of inhibitors for allergies
Brooks, W. H., & Renaudineau, Y. (2024) · Journal of Allergy and Hypersensitivity Diseases · doi:10.1016/j.jahd.2024.100001 · Cited by 3 · see citing works
Advances in asthma and allergic disease genetics
Schoettler, N. (2024) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000001056 · Cited by 4 · see citing works
Zhu, W. S., Litterman, A. J., Sekhon, H., Kageyama, R., Arce, M. M., Taylor, K. E., Zhao, W., Criswell, L. A., Zaitlen, N., Erle, D. J., et al. (2023) · Genome biology · doi:10.1186/s13059-023-03125-2 · Cited by 3 · see citing works
Vandermeulen, M. D., Khaiwal, S., Rubio, G., Liti, G., & Cullen, P. J. (2024) · iScience · doi:10.1016/j.isci.2024.110860 · Cited by 2 · see citing works
Inborn Errors of Immunity in Apoptosis
Makkoukdji, N., Satnarine, T., de Almeida, A. X., Wyke, M., Kim, I., Kleiner, G., & Gans, M. D. (2025) · Frontiers in Bioscience-Landmark · doi:10.31083/fbl27231 · Cited by 2 · see citing works
Demirkaya, D. B., Colak, B. C., Sefer, A. P., & Barış, S. (2025) · Expert Review of Clinical Immunology · doi:10.1080/1744666x.2025.2543475 · Cited by 3 · see citing works
Modulation of STAT6 signaling for hepatoprotection
Somm, E., Rahman, M., Szántó, I., Gariani, K., & Jornayvaz, F. R. (2025) · Frontiers in Pharmacology · doi:10.3389/fphar.2025.1659227 · Cited by 2 · see citing works
STAT wars: how STATopathies sabotage innate immunity
Bloomfield, M., Šabatková, K., & Paračková, Z. (2026) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000001139 · Cited by 2 · see citing works
Andersen, S. H., Assing, K., Jensen, J. B., Rasmussen, L. D., Laursen, C. B., Dellgren, C., Hinke, D. M., Degn, S. E., & Mogensen, T. H. (2026) · Journal of Human Immunity · doi:10.70962/jhi.20250119 · Cited by 2 · see citing works
Clinical heterogeneity and endotype stratification in eosinophilic esophagitis
Shoda, T., & Ruffner, M. A. (2026) · Annals of Allergy Asthma & Immunology · doi:10.1016/j.anai.2026.04.019 · Cited by 2 · see citing works
Understanding the Type 2 Immunity: An Evolving View Beyond Allergic Diseases
Jiménez‐Saiz, R., Iborra, S., Blanco, C., González‐Pérez, R., Nuñez‐Borque, E., Zeyneloglu, C., Babayev, H., Göksel, Ö., Göksel, T., Khaitov, M. R., et al. (2026) · Allergy · doi:10.1111/all.70512 · Cited by 2 · see citing works
He, J., Zhang, S., Kang, Y., Zhang, Y., Zheng, Z., & Ruan, M. (2024) · Open Life Sciences · doi:10.1515/biol-2022-0853 · Cited by 2 · see citing works
Decoding Immunobiology Through Genetic Errors of Immunity
Bender, M. J., & Lucas, C. L. (2025) · Annual Review of Immunology · doi:10.1146/annurev-immunol-082323-124920 · Cited by 2 · see citing works
Pathological IgE Production in Inborn Errors of Immunity and Beyond
Ma, C. S., & Hsu, P. S. (2025) · Immunological Reviews · doi:10.1111/imr.70053 · Cited by 2 · see citing works
Vorsteveld, E. E., van der Made, C. I., Smeekens, S. P., Schuurs-Hoeijmakers, J. H. M., Astuti, G., Diepstra, H., Gilissen, C., Hoenselaar, E., Janssen, A., van Roozendaal, K. E. P., et al. (2024) · medRxiv · doi:10.1101/2024.06.14.24308832 · Cited by 2 · see citing works
Self-citationHuman germline biallelic loss-of-function OSMR variants cause severe allergic diseasePreprint
Sharma, M., Samra, S., Liu, Y., James, A. E., Michalski, C., Yousefi, P., Bel, K. L. D., Lu, H. Y., Sharma, A., Tarailo‐Graovac, M., et al. (2025) · medRxiv · doi:10.1101/2025.08.05.25332527 · Cited by 2 · see citing works
Self-citationHuman Immunodeficiencies Caused by Inborn Errors of B-Cell Development or Function
Tangye, S. G., Casanova, J., & Ma, C. S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95895-0.00013-1 · Cited by 1 · see citing works
Self-citationCytokine signaling defects in primary atopic diseases—an updated review
Thakur, V., Pilania, R. K., Sharma, A., Sharma, S., Mario, A. T., Goyal, T., Sharma, M., Vaitheeswaran, G. C., Vignesh, P., Singh, S., et al. (2025) · Frontiers in Allergy · doi:10.3389/falgy.2025.1617714 · Cited by 1 · see citing works
Self-citationRare germline JAK/STAT variants in a Korean cohort amplify innate immune responses to vaccination
Lee, H., Cho, G., Huh, J. W., Furth, P. A., Kim, J., & Hennighausen, L. G. (2025) · iScience · doi:10.1016/j.isci.2025.114110 · Cited by 1 · see citing works
CPA3 drives the development of asthma by promoting the activation of the JAK/STAT6 pathway
Wang, K., Wu, R. Y., Fan, M., Jia, R., Liu, Y., Li, Y., Li, P., Wang, Y., Jiang, T., & Cheng, Z. (2025) · Respiratory Research · doi:10.1186/s12931-025-03456-7 · Cited by 1 · see citing works
JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities
Huang, Z., Cui, Y., Zhang, W., Shen, J., Dai, Q., Sun, S., & Jiang, L. (2026) · International Journal of Oral Science · doi:10.1038/s41368-025-00399-z · Cited by 1 · see citing works
Zhang, S., Xiong, S., Liu, X., Cao, J., Yue, N., & Wu, C. (2026) · Annals of Hematology · doi:10.1007/s00277-026-06932-2 · Cited by 1 · see citing works
Primary atopic disorders: Monogenic insights into immunity
Modi, B. P., McDonald, C., Golding, L., da Silva, L. B. R., Biggs, C. M., Körholz, J., James, E. L., & Turvey, S. E. (2026) · Journal of Human Immunity · doi:10.70962/jhi.20260006 · Cited by 1 · see citing works
Self-citationJanus Kinase Inhibitors in Treatment of Primary Immune Regulatory Disorders
Alsaati, N., & Satter, L. F. (2026) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2026.05.019 · Cited by 1 · see citing works
Eczema in inborn errors of immunity with atopy: frequency, timing and phenotypic clustering
Aubert, H., Mahlaoui, N., Barbarot, S., Alligon, M., Pellier, I., Mallebranche, C., Bustamante, J. C., Rosain, J., Pïcard, C., Néel, A., et al. (2026) · British Journal of Dermatology · doi:10.1093/bjd/ljag308 · Cited by 1 · see citing works
An updated patent review of STAT6 inhibitors and modulators (2020 – present)
Khan, M. Z. I., Du, B.-Q., Xue, M., Yu, M.-Q., Li, S.-R., 王建设, Wang, C.-C., & Ye, X. (2026) · Expert Opinion on Therapeutic Patents · doi:10.1080/13543776.2026.2713551 · Cited by 1 · see citing works
Tang, R., Lyu, X., Sun, J., & Li, H. (2024) · Endocrine Metabolic & Immune Disorders - Drug Targets · doi:10.2174/0118715303285101240118062549 · Cited by 1 · see citing works
Targeting the common pathway: IL-4/IL-13 blockade across the spectrum of primary atopic disorders
van Konijnenburg, D. P. H., & Platt, C. D. (2025) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2025.08.019 · Cited by 1 · see citing works
Vaseghi‐Shanjani, M., Eigenmann, P., Riggioni, C., & Turvey, S. E. (2026) · Pediatric Allergy and Immunology · doi:10.1111/pai.70356 · Cited by 1 · see citing works
Self-citationKim, M.-J., Lee, S., & Kang, K.-S. (2026) · Experimental & Molecular Medicine · doi:10.1038/s12276-026-01840-x
- Authors
- Sharma, M., Leung, D., Momenilandi, M., Jones, L. C. W., Pacillo, L., James, A. E., Murrell, J. R., Delafontaine, S., Maimaris, J., Vaseghi-Shanjani, M., Del Bel, K. L., Lu, H. Y., Chua, G. T., Di Cesare, S., Fornes, O., Liu, Z., Di Matteo, G., Fu, M. P., Amodio, D., Tam, I. Y. S., Chan, G. S. W., Sharma, A. A., Dalmann, J., van der Lee, R., Blanchard-Rohner, G., Lin, S., Philippot, Q., Richmond, P. A., Lee, J. J., Matthews, A., Seear, M., Turvey, A. K., Philips, R. L., Brown-Whitehorn, T. F., Gray, C. J., Izumi, K., Treat, J. R., Wood, K. H., Lack, J., Khleborodova, A., Niemela, J. E., Yang, X., Liang, R., Kui, L., Wong, C. S. M., Poon, G. W. K., Hoischen, A., van der Made, C. I., Yang, J., Chan, K. W., Rosa Duque, J. S. D., Lee, P. P. W., Ho, M. H. K., Chung, B. H. Y., Le, H. T. M., Yang, W., Rohani, P., Fouladvand, A., Rokni-Zadeh, H., Changi-Ashtiani, M., Miryounesi, M., Puel, A., Shahrooei, M., Finocchi, A., Rossi, P., Rivalta, B., Cifaldi, C., Novelli, A., Passarelli, C., Arasi, S., Bullens, D., Sauer, K., Claeys, T., Biggs, C. M., Morris, E. C., Rosenzweig, S. D., O’Shea, J. J., Wasserman, W. W., Bedford, H. M., van Karnebeek, C. D. M., Palma, P., Burns, S. O., Meyts, I., Casanova, J.-L., Lyons, J. J., Parvaneh, N., Nguyen, A. T. V., Cancrini, C., Heimall, J., Ahmed, H., McKinnon, M. L., Lau, Y. L., Béziat, V., & Turvey, S. E.
- Affiliations
- University of British Columbia (CA)
- University of Hong Kong (HK)
- Hôpital Necker-Enfants Malades (FR)
- University of Rome Tor Vergata (IT)
- National Institutes of Health (US)
- Children's Hospital of Philadelphia (US)
- Universitair Ziekenhuis Leuven (BE)
- Royal Free London NHS Foundation Trust (GB)
- Dept. of Pediatrics, BC Children’s Hospital, University of British Columbia 1 , Vancouver, Canada
- Broad Institute (US)
- Union Hospital (HK)
- Dept. of System Medicine, Pediatric Chair, University of Tor Vergata 5 , Rome, Italy
- Centre for Molecular Medicine and Therapeutics, BC Children’s Hospital Research Institute 18 , Vancouver, Canada
- Academic Dept. of Pediatrics (DPUO), 6 , Rome, Italy
- Bambino Gesù Children's Hospital (IT)
- Queen Mary Hospital (CN)
- Emory University (US)
- University of Toronto (CA)
- University of Pennsylvania (US)
- National Institutes of Health Clinical Center (US)
- University of California San Diego (US)
- Radboud University Medical Center (NL)
- Dept. of Human Genetics, Radboud University Medical Center 36 , Nijmegen, Netherlands
- Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong 2 , Hong Kong, China
- Vinmec Times City International Hospital (VN)
- Children's Medical Center (IR)
- Lorestan University of Medical Sciences (IR)
- Dept. of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences 41 , Zanjan, Iran
- School of Mathematics, Institute for Research in Fundamental Sciences 42 , Tehran, Iran
- Shahid Beheshti University (IR)
- KU Leuven (BE)
- AZ Sint-Jan (BE)
- BC Children's Hospital Research Institute (CA)
- Vietnam National Children's Hospital (VN)
- McMaster University (CA)
- Corresponding author
- Sharma, Mehul
- Turvey, Stuart E.
- ORCID
- Sharma, Mehul
- Leung, Daniel
- Momenilandi, Mana
- Jones, Lauren C.W.
- Pacillo, Lucia
- James, Alyssa E.
- Murrell, Jill R.
- Delafontaine, Selket
- Maimaris, Jesmeen
- Vaseghi-Shanjani, Maryam
- Del Bel, Kate L.
- Lu, Henry Y.
- Chua, Gilbert T.
- Di Cesare, Silvia
- Fornes, Oriol
- Liu, Zhongyi
- Di Matteo, Gigliola
- Fu, Maggie P.
- Amodio, Donato
- Tam, Issan Yee San
- Chan, Gavin Shueng Wai
- Sharma, Ashish A.
- Dalmann, Joshua
- van der Lee, Robin
- Blanchard-Rohner, Géraldine
- Lin, Susan
- Philippot, Quentin
- Richmond, Phillip A.
- Lee, Jessica J.
- Matthews, Allison
- Seear, Michael
- Turvey, Alexandra K.
- Philips, Rachael L.
- Brown-Whitehorn, Terri F.
- Gray, Christopher J.
- Izumi, Kosuke
- Treat, James R.
- Wood, Kathleen H.
- Lack, Justin
- Khleborodova, Asya
- Niemela, Julie E.
- Yang, Xingtian
- Liang, Rui
- Kui, Lin
- Wong, Christina Sze Man
- Poon, Grace Wing Kit
- Hoischen, Alexander
- van der Made, Caspar I.
- Yang, Jing
- Chan, Koon Wing
- Rosa Duque, Jaime Sou Da
- Lee, Pamela Pui Wah
- Ho, Marco Hok Kung
- Chung, Brian Hon Yin
- Le, Huong Thi Minh
- Yang, Wanling
- Rohani, Pejman
- Fouladvand, Ali
- Rokni-Zadeh, Hassan
- Changi-Ashtiani, Majid
- Miryounesi, Mohammad
- Puel, Anne
- Shahrooei, Mohammad
- Finocchi, Andrea
- Rossi, Paolo
- Rivalta, Beatrice
- Cifaldi, Cristina
- Novelli, Antonio
- Passarelli, Chiara
- Arasi, Stefania
- Bullens, Dominique
- Sauer, Kate
- Claeys, Tania
- Biggs, Catherine M.
- Morris, Emma C.
- Rosenzweig, Sergio D.
- O’Shea, John J.
- Wasserman, Wyeth W.
- Bedford, H. Melanie
- van Karnebeek, Clara D.M.
- Palma, Paolo
- Burns, Siobhan O.
- Meyts, Isabelle
- Casanova, Jean-Laurent
- Lyons, Jonathan J.
- Parvaneh, Nima
- Nguyen, Anh Thi Van
- Cancrini, Caterina
- Heimall, Jennifer
- Ahmed, Hanan
- McKinnon, Margaret L.
- Lau, Yu Lung
- Béziat, Vivien
- Turvey, Stuart E.
- Venue
- Journal of Experimental Medicine
- Publisher
- Rockefeller University Press
- Published
- 2023-03-08
- Volume
- 220
- Issue
- 5
- ISSN
- 0022-1007 (ISSN-L)
- 1540-9538
- PMC
- PMC10037107
- OpenAlex
- W4323533826
- Cited by
- 125
- References
- 130
- Citations by year
- 2026: 31 · 2025: 33 · 2024: 33 · 2023: 26 · 2022: 2
- FWCI
- 14.14
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Experimental Medicine (publishedVersion, cc-by)
- medRxiv (acceptedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HAL (submittedVersion, cc-by)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion, cc-by)
- UCL Discovery (University College London) (submittedVersion, cc-by)
- Lirias (KU Leuven) (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion, cc-by)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, other-oa)
- Funders
- Canadian Institutes of Health Research (PJT 178054)
- Genome British Columbia (SIP007)
- BC Children’s Hospital Foundation
- Canada Research Chair
- CIHR Frederick Banting
- University of British Columbia
- Charles Best Canada Graduate Scholarships Doctoral Award
- BC Children’s Hospital Research Institute
- Vanier Canada
- Elizabeth Paige Lavin Endowed Chair
- National Institute of Allergy and Infectious Diseases
- National Institutes of Health
- Howard Hughes Medical Institute
- Rockefeller University
- St. Giles Foundation
- French National Research Agency (ANR-10-IAHU-01, ANR CARMIL2, ANR-21-CE15-0034)
- Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID)
- French Foundation for Medical Research (EQU201903007798)
- Square Foundation
- Institut National de la Santé et de la Recherche Médicale
- Paris University Cité
- Children’s Hospital Bambino Gesù
- Italian Ministry of Health (NET-2011-02350069)
- PENTA Foundation UK
- ViiV Healthcare UK
- Society for the Relief of Disabled Children
- Jeffrey Modell Foundation
- Chung Ko Lee and Cheung Yuen Kan Education and Research Fund
- Croucher Foundation
- Edward & Yolanda Wong Fund
- Instituts Thématiques Multiorganismes
- Institut National du Cancer
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Physiology › Asthma and respiratory diseases
- Health Sciences › Medicine › Dermatology › Dermatology and Skin Diseases
- Keywords
- STAT6, gain-of-function mutations, germline mutations, allergic diseases, atopic dermatitis, hypereosinophilia, eosinophilic gastrointestinal disorders, asthma, IgE-mediated food allergy, anaphylaxis, Th2 polarization, dupilumab, autosomal dominant inheritance, STAT6 phosphorylation
- MeSH terms
- Gain of Function Mutation, Asthma, Food Hypersensitivity, Humans, Immunoglobulin E, STAT6 Transcription Factor
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
