Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
Open accessAbstract
Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked to the development of B cell acute lymphoblastic leukemia (ALL) in children and adults. Recently, heterozygous germline IKZF1 mutations have been identified in patients with a B cell immune deficiency mimicking common variable immunodeficiency. These mutations demonstrated incomplete penetrance and led to haploinsufficiency. Herein, we report 7 unrelated patients with a novel early-onset combined immunodeficiency associated with de novo germline IKZF1 heterozygous mutations affecting amino acid N159 located in the DNA-binding domain of IKZF1. Different bacterial and viral infections were diagnosed, but Pneumocystis jirovecii pneumonia was reported in all patients. One patient developed a T cell ALL. This immunodeficiency was characterized by innate and adaptive immune defects, including low numbers of B cells, neutrophils, eosinophils, and myeloid dendritic cells, as well as T cell and monocyte dysfunctions. Notably, most T cells exhibited a naive phenotype and were unable to evolve into effector memory cells. Functional studies indicated these mutations act as dominant negative. This defect expands the clinical spectrum of human IKZF1-associated diseases from somatic to germline, from haploinsufficient to dominant negative.
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?
Lenalidomide monotherapy has produced CR rates of almost 20% in the settings of both newly diagnosed and R/R AML.
“Lenalidomide monotherapy has produced CR rates of almost 20% in the settings of both newly diagnosed and R/R AML102,103.”
From Cancer therapies based on targeted protein degradation — lessons learned with lenalidomide (2021) · cites this paper as [102]
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
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Love, M. I., Huber, W., & Anders, S. (2014) · Genome Biology · doi:10.1186/s13059-014-0550-8 · Cited by 95,106 · see citing works
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
Deciphering key features in protein structures with the new ENDscript server
Robert, X., & Gouet, P. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku316 · Cited by 7,053 · see citing works
Comparative Protein Structure Modeling of Genes and Genomes
Martí-Renom, M. A., Stuart, A. C., Fiser, A., Sánchez, R., Melo, F., & Šali, A. (2000) · Annual Review of Biophysics and Biomolecular Structure · doi:10.1146/annurev.biophys.29.1.291 · Cited by 3,169 · see citing works
Deletion of <i>IKZF1</i> and Prognosis in Acute Lymphoblastic Leukemia
Mullighan, C. G., Su, X., Zhang, J., Radtke, I., Phillips, L. A. A., Miller, C. B., Ma, J., Liu, W., Cheng, C., Schulman, B. A., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0808253 · Cited by 1,422 · see citing works
The ikaros gene is required for the development of all lymphoid lineages
Georgopoulos, K., Bigby, M., Wang, J.-H., Molnar, A., Wu, P., Winandy, S., & Sharpe, A. (1994) · Cell · doi:10.1016/0092-8674(94)90407-3 · Cited by 985 · see citing works
Lymphocyte subsets in healthy children from birth through 18 years of age
Shearer, W. T., Rosenblatt, H. M., Gelman, R. S., Oyomopito, R. A., Plaeger, S. F., Stiehm, E. R., Wara, D. W., Douglas, S. D., Luzuriaga, K., McFarland, E. J., et al. (2003) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2003.07.003 · Cited by 827 · see citing works
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
Spinner, M. A., Sanchez, L. A., Hsu, A. P., Shaw, P. A., Zerbe, C. S., Calvo, K. R., Arthur, D. C., Gu, W., Gould, C. M., Brewer, C. C., et al. (2013) · Blood · doi:10.1182/blood-2013-07-515528 · Cited by 713 · see citing works
Self-citationWang, J., Nichogiannopoulou, A., Wu, L. J., Sun, L., Sharpe, A. H., Bigby, M. E., & Georgopoulos, K. (1996) · Immunity · doi:10.1016/s1074-7613(00)80269-1 · Cited by 614 · see citing works
Ikaros DNA-Binding Proteins Direct Formation of Chromatin Remodeling Complexes in Lymphocytes
Kim, J., Sif, S., Jones, B., Jackson, A., Koipally, J., Heller, E., Winandy, S., Viel, A., Sawyer, A., Ikeda, T., et al. (1999) · Immunity · doi:10.1016/s1074-7613(00)80034-5 · Cited by 587 · see citing works
A dominant mutation in the Ikaros gene leads to rapid development of leukemia and lymphoma
Winandy, S., Wu, P. W., & Georgopoulos, K. (1995) · Cell · doi:10.1016/0092-8674(95)90170-1 · Cited by 527 · see citing works
Dorman, S. E., & Holland, S. M. (1998) · Journal of Clinical Investigation · doi:10.1172/jci2901 · Cited by 429 · see citing works
Self-citationCourtois, G., Smahi, A., Reichenbach, J., Döffinger, R., Cancrini, C., Bonnet, M., Puel, A., Chable-Bessia, C., Yamaoka, S., Feinberg, J. M., et al. (2003) · Journal of Clinical Investigation · doi:10.1172/jci18714 · Cited by 376 · see citing works
Self-citationHaematopoietic cell-fate decisions, chromatin regulation and ikaros
Georgopoulos, K. (2002) · Nature reviews. Immunology · doi:10.1038/nri747 · Cited by 324 · see citing works
Targeting of Ikaros to pericentromeric heterochromatin by direct DNA binding
Cobb, B. S., Morales-Alcelay, S., Kleiger, G., Brown, K. E., Fisher, A. G., & Smale, S. T. (2000) · Genes & Development · doi:10.1101/gad.816400 · Cited by 252 · see citing works
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
Kuehn, H. S., Boisson, B., Cunningham‐Rundles, C., Reichenbach, J., Stray‐Pedersen, A., Gelfand, E. W., Maffucci, P., Pierce, K. R., Abbott, J. K., Voelkerding, K. V., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1512234 · Cited by 244 · see citing works
Self-citationHuman IFNAR2 deficiency: Lessons for antiviral immunity
Duncan, C. J. A., Mohamad, S. M., Young, D. F., Skelton, A. J., Leahy, T. R., Munday, D. C., BUTLER, K. M., Morfopoulou, S., Brown, J. R., Hubank, M. J. F., et al. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aac4227 · Cited by 237 · see citing works
The Ikaros gene family: Transcriptional regulators of hematopoiesis and immunity
John, L. B., & Ward, A. C. (2011) · Molecular Immunology · doi:10.1016/j.molimm.2011.03.006 · Cited by 231 · see citing works
Severe combined immunodeficiencies and related disorders
Fischer, A., Notarangelo, L. D., Neven, B., Cavazzana, M., & Puck, J. M. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.61 · Cited by 219 · see citing works
Self-citationLoss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
Kotlarz, D., Ziętara, N., Uzel, G., Weidemann, T., Braun, C. J., Diestelhorst, J., Krawitz, P. M., Robinson, P. N., Hecht, J., Puchałka, J., et al. (2013) · The Journal of Experimental Medicine · doi:10.1084/jem.20111229 · Cited by 217 · see citing works
Paediatric Reference Values for the Peripheral T cell Compartment
Schatorjé, E. J. H., Gemen, E. F. A., Driessen, G. J. A., Leuvenink, J., van Hout, R. W. N. M., & de Vries, E. (2012) · Scandinavian Journal of Immunology · doi:10.1111/j.1365-3083.2012.02671.x · Cited by 203 · see citing works
Molnár, A., Wu, P., Largespada, D. A., Vortkamp, A., Scherer, S. W., Copeland, N. G., Jenkins, N. A., Bruns, G. A. P., & Georgopoulos, K. (1996) · The Journal of Immunology · doi:10.4049/jimmunol.156.2.585 · Cited by 168 · see citing works
Modulation of immune cell signalling by the leukocyte common tyrosine phosphatase, CD45
Saunders, A., & Johnson, P. (2009) · Cellular Signalling · doi:10.1016/j.cellsig.2009.10.003 · Cited by 167 · see citing works
Papathanasiou, P., Perkins, A. C., Cobb, B. S., Ferrini, R., Sridharan, R., Hoyne, G. F., Nelms, K. A., Smale, S. T., & Goodnow, C. C. (2003) · Immunity · doi:10.1016/s1074-7613(03)00168-7 · Cited by 152 · see citing works
MHC class I and II deficiencies
Hanna, S., & Etzioni, A. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2014.06.001 · Cited by 144 · see citing works
de la Morena, M. T., Leonard, D., Torgerson, T. R., Cabral-Marques, O., Slatter, M. A., Aghamohammadi, A., Chandra, S., Murguía-Favela, L. E., Bonilla, F. A., Kanariou, M. G., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.07.039 · Cited by 138 · see citing works
A human immunodeficiency syndrome caused by mutations in CARMIL2
Schober, T., Magg, T., Laschinger, M., Rohlfs, M., Linhares, N. D., Puchałka, J., Weißer, T., Fehlner, K., Mautner, J., Walz, C., et al. (2017) · Nature Communications · doi:10.1038/ncomms14209 · Cited by 133 · see citing works
Self-citationAbnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations
Hoshino, A., Okada, S., Yoshida, K., Nishida, N., Okuno, Y., Ueno, H., Yamashita, M., Okano, T., Tsumura, M., Nishimura, S., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.09.029 · Cited by 124 · see citing works
Self-citationIkaros regulates neutrophil differentiation
Dumortier, A., Kirstetter, P., Kastner, P., & Chan, S. H. (2003) · Blood · doi:10.1182/blood-2002-05-1336 · Cited by 95 · see citing works
Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD
Florea, A. E. D., Braylan, R. C., Schafernak, K. T., Williams, K. W., Daub, J. R., Goyal, R. K., Puck, J. M., Rao, V. K., Pittaluga, S., Holland, S. M., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.08.028 · Cited by 77 · see citing works
Self-citationOlsson, L., & Johansson, B. (2015) · British Journal of Haematology · doi:10.1111/bjh.13342 · Cited by 76 · see citing works
Infections in IFNGR-1-Deficient Children
Jouanguy, E., ALTARE, F., Lamhamedi‐Cherradi, S., & Casanova, J. (1997) · Journal of Interferon & Cytokine Research · doi:10.1089/jir.1997.17.583 · Cited by 73 · see citing works
Ikaros Silences T-bet Expression and Interferon-γ Production during T Helper 2 Differentiation
Thomas, R. M., Chen, C., Chunder, N., Ma, L., Taylor, J. J., Pearce, E. J., & Wells, A. D. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.038794 · Cited by 68 · see citing works
de Diego, R. P., Sánchez‐Ramón, S., López‐Collazo, E., Martínez‐Barricarte, R., Cubillos‐Zapata, C., Cerdán, A. F., Casanova, J., & Puel, A. (2015) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2015.06.031 · Cited by 63 · see citing works
Ikaros inhibits megakaryopoiesis through functional interaction with GATA-1 and NOTCH signaling
Malinge, S., Thiollier, C., Chlon, T. M., Doré, L. C., Diebold, L. P., Bluteau, O., Mabialah, V., Vainchenker, W., Dessen, P., Winandy, S., et al. (2013) · Blood · doi:10.1182/blood-2012-08-450627 · Cited by 61 · see citing works
Yoshida, N., Sakaguchi, H., Muramatsu, H., Okuno, Y., Song, C., Dovat, S., Shimada, A., Ozeki, M., Ohnishi, H., TERAMOTO, T., et al. (2017) · Leukemia · doi:10.1038/leu.2017.25 · Cited by 53 · see citing works
Self-citationRonni, T., Payne, K. J., Ho, S., Bradley, M. N., Dorsam, G. P., & Dovat, S. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m605627200 · Cited by 50 · see citing works
A mechanism for Ikaros regulation of human globin gene switching
Keys, J. R., Tallack, M. R., Zhan, Y., Papathanasiou, P., Goodnow, C. C., Gaensler, K. M. L., Crossley, M., Dekker, J., & Perkins, A. C. (2008) · British Journal of Haematology · doi:10.1111/j.1365-2141.2008.07065.x · Cited by 40 · see citing works
Ikaros limits basophil development by suppressing C/EBP-α expression
Rao, K. N., Smuda, C., Gregory, G. D., Min, B., & Brown, M. A. (2013) · Blood · doi:10.1182/blood-2013-04-494625 · Cited by 33 · see citing works
Characterization of How DNA Modifications Affect DNA Binding by C2H2 Zinc Finger Proteins
Patel, A. B., Hashimoto, H., Zhang, X., & Cheng, X. (2016) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/bs.mie.2016.01.019 · Cited by 32 · see citing works
A comparison of TRECs and flow cytometry for naive T cell quantification
Adams, S., Kricke, S., Ralph, E., Gilmour, N., & Gilmour, K. (2018) · Clinical and Experimental Immunology · doi:10.1111/cei.13062 · Cited by 25 · see citing works
Refinement of IKZF1 status in pediatric Philadelphia-positive acute lymphoblastic leukemia
Lana, T., Lorenzo, P. D., Bresolin, S., Bronzini, I., den Boer, M. L., Cavé, H., Froňková, E., Stanulla, M., Zaliova, M. K., Harrison, C. J., et al. (2015) · Leukemia · doi:10.1038/leu.2015.78 · Cited by 19 · see citing works
Trung, N. T., Kremmer, E., & Mittler, G. (2016) · BMC Genomics · doi:10.1186/s12864-016-3033-3 · Cited by 15 · see citing works
Ikaros limits follicular B cell activation by regulating B cell receptor signaling pathways
Heizmann, B., Sellars, M., Macias-Garcia, A., Chan, S. H., & Kastner, P. (2016) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2016.01.060 · Cited by 9 · see citing works
Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations
Abdulhay, N. J., Fiorini, C., Kumánovics, A., Sun, A. A., Hansen-Rejali, J., Voelkerding, K. V., Rosenzweig, S. D., Hill, H. R., & Sankaran, V. G. (2016) · Blood · doi:10.1182/blood-2016-08-731943 · Cited by 8 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Tangye, S. G., Al–Herz, W., Bousfiha, A. A., Chatila, T. A., Cunningham‐Rundles, C., Etzioni, A., Franco, J. L., Holland, S. M., Klein, C., Morio, T., et al. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-019-00737-x · Cited by 1,221 · see citing works
Self-citationCurrent genetic landscape in common variable immune deficiency
Abolhassani, H., Hammarström, L. L. G., & Cunningham‐Rundles, C. (2020) · Blood · doi:10.1182/blood.2019000929 · Cited by 185 · see citing works
Discovery and characterization of a selective IKZF2 glue degrader for cancer immunotherapy
Bonazzi, S., d’Hennezel, E., Beckwith, R. E. J., Xu, L., Fazal, A., Magracheva, A., Ramesh, R., Cernijenko, A., Antonakos, B., Bhang, H.-E. C., et al. (2023) · Cell Chemical Biology · doi:10.1016/j.chembiol.2023.02.005 · Cited by 167 · see citing works
Hadjadj, J., Aladjidi, N., Fernandes, H., Leverger, G., Magérus, A., Mazerolles, F., Stolzenberg, M., Jacques, S., Pïcard, C., Rosain, J., et al. (2019) · Blood · doi:10.1182/blood-2018-11-887141 · Cited by 159 · see citing works
Self-citationAdvances in germline predisposition to acute leukaemias and myeloid neoplasms
Klco, J. M., & Mullighan, C. G. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-00315-z · Cited by 159 · see citing works
Cancer therapies based on targeted protein degradation — lessons learned with lenalidomide
Jan, M., Sperling, A. S., & Ebert, B. L. (2021) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-021-00479-z · Cited by 137 · see citing works
Common variable immune deficiency: Dissection of the variable
Cunningham‐Rundles, C. (2018) · Immunological Reviews · doi:10.1111/imr.12728 · Cited by 94 · see citing works
Hoshino, A., Boutboul, D., Zhang, Y., Kuehn, H. S., Hadjadj, J., Özdemir, N., Celkan, T. T., Walz, C., Pïcard, C., Lenoir, C., et al. (2022) · Science Immunology · doi:10.1126/sciimmunol.abi7160 · Cited by 79 · see citing works
Self-citationRecent advances in genetic predisposition to pediatric acute lymphoblastic leukemia
Bloom, M., Maciaszek, J. L., Clark, M. E., Pui, C., & Nichols, K. E. (2019) · Expert Review of Hematology · doi:10.1080/17474086.2020.1685866 · Cited by 76 · see citing works
Cheng, W., Li, J., Zhu, Y., Lin, X., Wen, L., Zhang, F., Zhang, Y., Zhao, M., Fang, H., Wang, S., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2211429119 · Cited by 77 · see citing works
Self-citationStrand, J. M., Gul, K. A., Erichsen, H. C., Lundman, E., Berge, M. C., Trømborg, A. K., Sørgjerd, L. K., Ytre-Arne, M. E., Hogner, S., Halsne, R., et al. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.01417 · Cited by 73 · see citing works
Hetemäki, I., Kaustio, M., Kinnunen, M., Heikkilä, N., Keskitalo, S., Nowlan, K., Miettinen, S., Sarkkinen, J., Glumoff, V., Andersson, N., et al. (2021) · Science Immunology · doi:10.1126/sciimmunol.abe3454 · Cited by 69 · see citing works
Haas, O. A. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2018.03136 · Cited by 70 · see citing works
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS
Yamashita, M., Kuehn, H. S., Okuyama, K., Okada, S., Inoue, Y., Mitsuiki, N., Imai, K., Takagi, M., Kanegane, H., Takeuchi, M., et al. (2021) · Nature Immunology · doi:10.1038/s41590-021-00951-z · Cited by 66 · see citing works
Self-citationTranscription factor mutations as a cause of familial myeloid neoplasms
Churpek, J. E., & Bresnick, E. H. (2019) · Journal of Clinical Investigation · doi:10.1172/jci120854 · Cited by 60 · see citing works
Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency
Kuehn, H. S., Boast, B., & Rosenzweig, S. D. (2022) · Clinical & Experimental Immunology · doi:10.1093/cei/uxac109 · Cited by 60 · see citing works
Self-citationTranscriptomic classes of BCR-ABL1 lymphoblastic leukemia
Kim, J. C., Chan‐Seng‐Yue, M., Ge, S., Zeng, A. G. X., Ng, K., Gan, O. I., García‐Prat, L., Figueroa, E. F., Woo, T., Zhang, A. X. W., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01429-4 · Cited by 57 · see citing works
Aubrey, B., Cutler, J., Bourgeois, W., Donovan, K., Gu, S., Hatton, C., Perlee, S., Perner, F., Rahnamoun, H., Theall, A., et al. (2022) · Nature Cancer · doi:10.1038/s43018-022-00366-1 · Cited by 50 · see citing works
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies
Kuehn, H. S., Niemela, J. E., Stoddard, J. L., Mannurita, S. C., Shahin, T., Goel, S., Hintermeyer, M. K., Heredia, R. J., Garofalo, M. E., Lucas, L., et al. (2020) · Blood · doi:10.1182/blood.2020007292 · Cited by 57 · see citing works
Self-citationIdentification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation
Shahin, T., Mayr, D., Shoeb, M. R., Kuehn, H. S., Hoeger, B., Giuliani, S., Gawriyski, L. M., Petronczki, Ö. Y., Hadjadj, J., Bal, S. K., et al. (2021) · Blood Advances · doi:10.1182/bloodadvances.2021006367 · Cited by 56 · see citing works
Self-citationEskandarian, Z., Fliegauf, M., Bulashevska, A., Proietti, M., Hague, R., Smulski, C. R., Schubert, D., Warnatz, K., & Grimbacher, B. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.00568 · Cited by 56 · see citing works
Human genetics of life-threatening influenza pneumonitis
Zhang, Q. (2020) · Human Genetics · doi:10.1007/s00439-019-02108-3 · Cited by 54 · see citing works
Guiding T lymphopoiesis from pluripotent stem cells by defined transcription factors
Guo, R., Hu, F., Weng, Q., Lv, C., Wu, H., Liu, L., Li, Z., Zeng, Y., Bai, Z., Zhang, M., et al. (2019) · Cell Research · doi:10.1038/s41422-019-0251-7 · Cited by 53 · see citing works
Xue, T., Kong, X., & Ma, L. (2023) · Journal of Fungi · doi:10.3390/jof9080812 · Cited by 54 · see citing works
Toward prevention of childhood ALL by early-life immune training
Hauer, J., Fischer, U., & Borkhardt, A. (2021) · Blood · doi:10.1182/blood.2020009895 · Cited by 51 · see citing works
Understanding mast cell heterogeneity at single cell resolution
Cildir, G., Yip, K. H., Pant, H., Tergaonkar, V., Lopez, A. F., & Tumes, D. J. (2021) · Trends in Immunology · doi:10.1016/j.it.2021.04.004 · Cited by 46 · see citing works
Gocho, Y., & Yang, J. J. J. (2019) · Blood · doi:10.1182/blood.2018852400 · Cited by 45 · see citing works
Kuehn, H. S., Chang, J., Yamashita, M., Niemela, J. E., Zou, C., Okuyama, K., Harada, J., Stoddard, J. L., Nunes-Santos, C. J., Boast, B., et al. (2021) · The Journal of Experimental Medicine · doi:10.1084/jem.20211118 · Cited by 45 · see citing works
Self-citationKuehn, H. S., Nunes-Santos, C. J., & Rosenzweig, S. D. (2021) · Journal of Clinical Immunology · doi:10.1007/s10875-020-00936-x · Cited by 43 · see citing works
Self-citationCell Fate Decisions: The Role of Transcription Factors in Early B-cell Development and Leukemia
Fischer, U., Yang, J. J. J., Ikawa, T., Hein, D., Vicente‐Dueñas, C., Borkhardt, A., & Sánchez-Garcı́a, I. (2020) · Blood Cancer Discovery · doi:10.1158/2643-3230.bcd-20-0011 · Cited by 44 · see citing works
Shahin, T., Kuehn, H. S., Shoeb, M. R., Gawriyski, L. M., Giuliani, S., Repiščák, P., Hoeger, B., Petronczki, Ö. Y., Bal, S. K., Zoghi, S., et al. (2021) · Science Immunology · doi:10.1126/sciimmunol.abe3981 · Cited by 43 · see citing works
Self-citationCippitelli, M., Stabile, H., Kosta, A., Petillo, S., Gismondi, A., Santoni, A., & Fionda, C. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22031103 · Cited by 42 · see citing works
Update on Infections in Primary Antibody Deficiencies
Demirdağ, Y. Y., & Gupta, S. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.634181 · Cited by 42 · see citing works
Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia
Li, J., Dai, Y., Wu, L., Zhang, M., Ouyang, W., Huang, J., & Chen, S. (2021) · Frontiers of Medicine · doi:10.1007/s11684-020-0821-6 · Cited by 43 · see citing works
Self-citationThe link between rheumatic disorders and inborn errors of immunity
Sogkas, G., & Witte, T. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104501 · Cited by 40 · see citing works
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Lentaigne, C., Greene, D. J., Sivapalaratnam, S., Favier, R., Seyres, D., Thys, C., Grassi, L., Mangles, S., Sibson, K. R., Stubbs, M. J., et al. (2019) · Blood · doi:10.1182/blood.2019000782 · Cited by 40 · see citing works
Okano, T., Imai, K., Naruto, T., Okada, S., Yamashita, M., Yeh, T.-W., Ono, S., Tanaka, K., Okamoto, K., Tanita, K., et al. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-020-00798-3 · Cited by 31 · see citing works
Self-citationLionakis, M. S. (2019) · Current Opinion in Infectious Diseases · doi:10.1097/qco.0000000000000593 · Cited by 32 · see citing works
Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis
Fekrvand, S., Abolhassani, H., Esfahani, Z. H., Fard, N. N. G., Amiri, M., Salehi, H., Almasi‐Hashiani, A., Saeedi‐Boroujeni, A., Fathi, N., Mohtashami, M., et al. (2024) · Journal of Clinical Immunology · doi:10.1007/s10875-024-01810-w · Cited by 31 · see citing works
Kuehn, H. S., Nunes-Santos, C. J., & Rosenzweig, S. D. (2021) · Expert Review of Clinical Immunology · doi:10.1080/1744666x.2021.1901582 · Cited by 30 · see citing works
Self-citationInborn errors of immunity—recent advances in research on the pathogenesis
Yamashita, M., Inoue, K., Okano, T., & Morio, T. (2021) · Inflammation and Regeneration · doi:10.1186/s41232-021-00159-6 · Cited by 30 · see citing works
Kellner, E. S., Krupski, C., Kuehn, H. S., Rosenzweig, S. D., Yoshida, N., Kojima, S., Boutboul, D., Latour, S., Barlogis, V., Galambrun, C., et al. (2019) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2019.03.025 · Cited by 28 · see citing works
Self-citationCellular signaling and epigenetic regulation of gene expression in leukemia
Gowda, C. S., Song, C., Ding, Y., Iyer, S., Dhanyamraju, P. K., McGrath, M., Bamme, Y., Soliman, M., Kane, S., Payne, J. L., et al. (2019) · Advances in Biological Regulation · doi:10.1016/j.jbior.2019.100665 · Cited by 27 · see citing works
Trottier, A. M., & Godley, L. A. (2020) · British Journal of Haematology · doi:10.1111/bjh.17247 · Cited by 27 · see citing works
Multiple functions of Ikaros in hematological malignancies, solid tumor and autoimmune diseases
Chen, Q., Shi, Y., Chen, Y., Ji, T., Li, Y., & Yu, L. (2018) · Gene · doi:10.1016/j.gene.2018.10.045 · Cited by 27 · see citing works
Chen, Z., Dhruv, H., Zhang, X., Rej, R. K., Bai, L., McEachern, D., Kirchhoff, P. D., Nagilla, R., Jolivette, L. J., Rice, C., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-58431-z · Cited by 26 · see citing works
IKAROS Family Zinc Finger 1–Associated Diseases in Primary Immunodeficiency Patients
Nunes-Santos, C. J., Kuehn, H. S., & Rosenzweig, S. D. (2020) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2020.04.004 · Cited by 29 · see citing works
Self-citationGuenther, C., Faisal, I., Fusciello, M., Sokolova, M., Harjunpää, H., Ilander, M. M., Tallberg, R., Vartiainen, M. K., Alon, R., González, J. M., et al. (2021) · Cancer Immunology Research · doi:10.1158/2326-6066.cir-21-0094 · Cited by 26 · see citing works
IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome
Dieudonné, Y., Guffroy, A., Vollmer, O., Carapito, R., & Korganow, A. (2019) · Journal of Clinical Immunology · doi:10.1007/s10875-019-00643-2 · Cited by 25 · see citing works
Ikaros-Associated Diseases: From Mice to Humans and Back Again
Boast, B., Nunes-Santos, C. D. J., Kuehn, H. S., & Rosenzweig, S. D. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.705497 · Cited by 25 · see citing works
Self-citationGuenther, C. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.809590 · Cited by 23 · see citing works
Human and mouse early B cell development: So similar but so different
Korzhenevich, J., Janowska, I., van der Burg, M., & Rizzi, M. (2023) · Immunology Letters · doi:10.1016/j.imlet.2023.07.004 · Cited by 23 · see citing works
Genes at the Crossroad of Primary Immunodeficiencies and Cancer
Derpoorter, C., Bordon, V., Laureys, G., Haerynck, F., & Lammens, T. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.02544 · Cited by 22 · see citing works
IKZF1 alterations predict poor prognosis in adult and pediatric T-ALL
Simonin, M., Lhermitte, L., Dourthe, M.-É., Lengliné, É., Graux, C., Grardel, N., Cayuela, J., Arnoux, I., Gandemer, V., Ifrah, N., et al. (2020) · Blood · doi:10.1182/blood.2020007959 · Cited by 23 · see citing works
Self-citationCD8+T Cell-Related Gene Biomarkers in Macular Edema of Diabetic Retinopathy
Huang, J., & Zhou, Q. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.907396 · Cited by 22 · see citing works
Inborn errors of IKAROS and AIOLOS
Yamashita, M., & Morio, T. (2021) · Current Opinion in Immunology · doi:10.1016/j.coi.2021.06.010 · Cited by 22 · see citing works
IKAROS: from chromatin organization to transcriptional elongation control
Affar, M., Bottardi, S., Quansah, N., Lemarié, M., Ramòn, A. C., Affar, E. B., & Milot, É. (2023) · Cell Death and Differentiation · doi:10.1038/s41418-023-01212-2 · Cited by 21 · see citing works
Liu, K., Wu, Z., Chu, J., Yang, L., & Wang, N. (2019) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2019.108913 · Cited by 21 · see citing works
Transcription factor networks link B-lymphocyte development and malignant transformation in leukemiaPreprint
Sigvardsson, M. (2023) · Genes & Development · doi:10.1101/gad.349879.122 · Cited by 22 · see citing works
Vu, T., Straube, J., Porter, A. H., Bywater, M. J., Song, A., Ling, V., Cooper, L. T., Pali, G., Bruedigam, C., Jacquelin, S., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-16840-2 · Cited by 20 · see citing works
Bloom, M., Oak, N., Baskin-Doerfler, R., Feng, R., Iacobucci, I., Baviskar, P. S., Zhao, X., Stroh, A. N., Li, C., Ozark, P. A., et al. (2023) · Blood Advances · doi:10.1182/bloodadvances.2022009313 · Cited by 19 · see citing works
Kuehn, H. S., Sakovich, I. S., Niemela, J. E., Silva, A. A. G., Stoddard, J. L., Polyakova, E. A., Sole, A. E., Aleshkevich, S. N., Углова, Т. А., Belevtsev, M. V., et al. (2023) · Journal of Clinical Investigation · doi:10.1172/jci172573 · Cited by 19 · see citing works
Self-citationFamilial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1
Sriaroon, P., Chang, Y., Ujházi, B., Csomós, K., Joshi, H. R., Zhou, Q., Close, D. W., Walter, J. E., & Kumánovics, A. (2019) · Frontiers in Pediatrics · doi:10.3389/fped.2019.00139 · Cited by 19 · see citing works
IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease
Liu, Q., Zheng, Y., Sturmlechner, I., Jain, A. K., Own, M., Yang, Q., Zhang, H., Vairo, F. P. E., Cerosaletti, K. M., Buckner, J. H., et al. (2024) · Journal of Clinical Investigation · doi:10.1172/jci178692 · Cited by 18 · see citing works
Genetic susceptibility to fungal infection in children
Ochoa, S., Constantine, G. M., & Lionakis, M. S. (2020) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000948 · Cited by 21 · see citing works
The New “Wholly Trinity” in the Diagnosis and Management of Inborn Errors of Immunity
Abraham, R. S., & Butte, M. J. (2021) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2020.11.044 · Cited by 17 · see citing works
Assessment of kinship detection using RNA-seq data
Blay, N., Casas, E., Galván‐Femenía, I., Graffelman, J., de Cid, R., & Vavouri, T. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz776 · Cited by 16 · see citing works
Mutated IKZF1 is an independent marker of adverse risk in acute myeloid leukemia
Eckardt, J., Stasik, S., Röllig, C., Petzold, A., Sauer, T., Scholl, S., Hochhaus, A., Crysandt, M. M., Brümmendorf, T. H., Naumann, R., et al. (2023) · Leukemia · doi:10.1038/s41375-023-02061-1 · Cited by 15 · see citing works
Sin, J. H., Sucharov, J., Kashyap, S., Wang, Y., Proekt, I., Liu, X., Parent, A. V., Gupta, A. R., Kastner, P., Chan, S. H., et al. (2023) · Science Immunology · doi:10.1126/sciimmunol.abq3109 · Cited by 15 · see citing works
Multifaceted roles of IKZF1 gene, perspectives from bench to bedside
Feng, L., Zhang, H., & Liu, T. (2024) · Frontiers in Oncology · doi:10.3389/fonc.2024.1383419 · Cited by 15 · see citing works
Catchet-MS identifies IKZF1-targeting thalidomide analogues as novel HIV-1 latency reversal agents
Ne, E., Crespo, R., Izquierdo-Lara, R. W., Rao, S., Koçer, S., Górska, A., van Staveren, T., Kan, T. W., van de Vijver, D. A. M. C., Dekkers, D. H. W., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac407 · Cited by 15 · see citing works
AIOLOS Variants Causing Immunodeficiency in Human and Mice
Yamashita, M., & Morio, T. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.866582 · Cited by 14 · see citing works
Identification of IKZF1 genetic mutations as new molecular subtypes in acute myeloid leukaemia
Wang, Y., Cheng, W., Zhang, Y., Zhang, Y., Sun, T., Zhu, Y., Yin, W. H., Zhang, J., Li, J., & Shen, Y. (2023) · Clinical and Translational Medicine · doi:10.1002/ctm2.1309 · Cited by 13 · see citing works
Harjunpää, H., Somermäki, R., Rubio, G. S., Fusciello, M., Feola, S., Faisal, I., Nieminen, A. I., Wang, L., Asens, M. L., Zhao, H., et al. (2024) · OncoImmunology · doi:10.1080/2162402x.2024.2369373 · Cited by 14 · see citing works
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers
Wouters, M., Ehlers, L., Eynde, W. V., Kars, M. E., Delafontaine, S., Kienapfel, V., Dzhus, M., Schrijvers, R., Haes, P. D., Struyf, S., et al. (2025) · The Journal of Experimental Medicine · doi:10.1084/jem.20250499 · Cited by 13 · see citing works
Yilmaz, E. A., Kuehn, H. S., Odakir, E., Niemela, J. E., Özcan, A., Eken, A., Rohlfs, M., Cansever, M., Gök, V., Aydın, F., et al. (2020) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000001976 · Cited by 12 · see citing works
Self-citationAIOLOS-Associated Inborn Errors of Immunity
Yamashita, M., & Morio, T. (2024) · Journal of Clinical Immunology · doi:10.1007/s10875-024-01730-9 · Cited by 11 · see citing works
Okuyama, K., Yamashita, M., Koumoundourou, A., Wiegreffe, C., Ohno‐Oishi, M., Murphy, S. J. H., Zhao, X., Yoshida, H., Ebihara, T., Satoh‐Takayama, N., et al. (2024) · Nature Immunology · doi:10.1038/s41590-024-01997-5 · Cited by 11 · see citing works
Min, Q., Meng, X., & Wang, J. O. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-981-15-3532-1_10 · Cited by 11 · see citing works
Groth, D., Lakkaraja, M. M., Ferreira, J. O., Feuille, E. J., Bassetti, J. A., & Kaicker, S. M. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-020-00781-y · Cited by 11 · see citing works
Defining the vascular niche of human adipose tissue across metabolic states
AlZaim, I., Hassan, M. N., Schröter, M., Mannino, L., Dragicevic, K., Sjogaard, M. B., Festa, J., Dokshokova, L., Weinbrenner, S., Ayllón, B. T., et al. (2026) · Nature Metabolism · doi:10.1038/s42255-026-01475-2 · Cited by 10 · see citing works
Klangkalya, N., Stoddard, J. L., Niemela, J. E., Sponaugle, J., Greenwell, I. B., Reigh, E. L., Kuehn, H. S., Kanakry, J. A., Rosenzweig, S. D., & Dimitrova, D. (2024) · Clinical Immunology · doi:10.1016/j.clim.2024.109922 · Cited by 10 · see citing works
Self-citationHoshino, A., Toyofuku, E., Mitsuiki, N., Yamashita, M., Okamoto, K., Yamamoto, M., Kanda, K., Yamato, G., Keino, D., Yoshimoto-Suzuki, Y., et al. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2021.784901 · Cited by 10 · see citing works
Self-citationOf Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases
Vinh, D. C. (2023) · Pathogens · doi:10.3390/pathogens12030456 · Cited by 10 · see citing works
Wang, B., Duan, J., & Zhou, L. (2021) · Anti-Cancer Drugs · doi:10.1097/cad.0000000000001041 · Cited by 10 · see citing works
Inborn errors of regulatory T-cell differentiation and function
Öktelik, F. B., Luo, Y., Benamar, M., & Chatila, T. A. (2025) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2025.07.001 · Cited by 9 · see citing works
Al‐Hakim, A., Kačar, M., & Savic, S. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13061717 · Cited by 8 · see citing works
Zhang, X., Dhruv, H., Deng, Q., Tudor, M., Bechtel, N., Nagilla, R., Jolivette, L. J., Rice, C., Orth, P., Behshad, E., et al. (2025) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.5c00668 · Cited by 8 · see citing works
Kuijpers, T. W., Tromp, S. A. M., van Leeuwen, E. M. M., & de Bree, G. J. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.865838 · Cited by 8 · see citing works
Hess, I., Sagar, O’Meara, C. P., Grün, D., Schorpp, M., & Boehm, T. L. J. (2022) · Scientific Reports · doi:10.1038/s41598-022-25978-6 · Cited by 8 · see citing works
Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation
Hoshino, A., Picard, B. H., Polychronopoulou, S., Kelaïdi, C., Azarnoush, S., Kracker, S., Rieux‐Laucat, F., Boutboul, D., & Latour, S. (2024) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2024.01.029 · Cited by 8 · see citing works
Self-citationKuehn, H. S., Gloude, N. J., Dimmock, D., Tokita, M., Wright, M. S., Rosenzweig, S. D., & Collins, C. A. (2021) · Journal of Clinical Immunology · doi:10.1007/s10875-021-01035-1 · Cited by 8 · see citing works
Self-citationThe telomere complex and the origin of the cancer stem cell
Torres-Montaner, A. (2021) · Biomarker Research · doi:10.1186/s40364-021-00339-z · Cited by 8 · see citing works
Updates of cancer hallmarks in patients with inborn errors of immunity
Wang, Y., & Abolhassani, H. (2022) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000000863 · Cited by 8 · see citing works
Tao, H., Li, Z., Mei, Y., Li, X., Lou, H., Dong, L., & Zhou, L. (2020) · International Immunopharmacology · doi:10.1016/j.intimp.2020.106832 · Cited by 8 · see citing works
IKZF2 Degradation: It′s Time to Take into Account it When Designing Cereblon‐Based PROTACs
Li, M. (2024) · ChemBioChem · doi:10.1002/cbic.202400365 · Cited by 7 · see citing works
Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function
Chang, J., Yamashita, M., Padhi, A. K., Zhang, K. Y. J., & Taniuchi, I. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1239779 · Cited by 7 · see citing works
Self-citationGuiding T lymphopoiesis from pluripotent stem cells by defined transcription factorsPreprint
Guo, R., Hu, F., Weng, Q., Lv, C., Wu, H., Liu, L., Li, Z., Zeng, Y., Bai, Z., Zhang, M., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/660977 · Cited by 7 · see citing works
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profilesPreprint
Brodie, S. A., Khincha, P. P., Giri, N., Bouk, A. J., Steinberg, M. K., Dai, J., Jessop, L., Donovan, F. X., Chandrasekharappa, S. C., de Andrade, K. C., et al. (2021) · Molecular Case Studies · doi:10.1101/mcs.a006015 · Cited by 7 · see citing works
Zhang, X., Deng, Q., Dhruv, H., Tudor, M., Nagilla, R., Jolivette, L. J., Rice, C., Orth, P., Behshad, E., Strickland, C. O., et al. (2025) · Bioorganic & Medicinal Chemistry Letters · doi:10.1016/j.bmcl.2025.130263 · Cited by 6 · see citing works
- Authors
- Boutboul, D., Kuehn, H. S., Van de Wyngaert, Z., Niemela, J. E., Callebaut, I., Stoddard, J., Lenoir, C., Barlogis, V., Farnarier, C., Vely, F., Yoshida, N., Kojima, S., Kanegane, H., Hoshino, A., Hauck, F., Lhermitte, L., Asnafi, V., Roehrs, P., Chen, S., Verbsky, J. W., Calvo, K. R., Husami, A., Zhang, K., Roberts, J., Amrol, D., Sleaseman, J., Hsu, A. P., Holland, S. M., Marsh, R., Fischer, A., Fleisher, T. A., Picard, C., Latour, S., & Rosenzweig, S. D.
- Affiliations
- Inserm (FR)
- National Institutes of Health (US)
- Centre National de la Recherche Scientifique (FR)
- Hôpital de la Timone (FR)
- Assistance Publique Hôpitaux de Marseille (FR)
- Japanese Red Cross Nagoya Daiichi Hospital (JP)
- Nagoya University (JP)
- Tokyo Medical and Dental University (JP)
- LMU Klinikum (DE)
- Hôpital Necker-Enfants Malades (FR)
- Carolinas Healthcare System (US)
- Medical College of Wisconsin (US)
- Cincinnati Children's Hospital Medical Center (US)
- Duke Medical Center (US)
- University of South Carolina (US)
- Corresponding author
- Latour, Sylvain
- Rosenzweig, Sergio D.
- ORCID
- Boutboul, David
- Kuehn, Hye Sun
- Niemela, Julie E.
- Callebaut, Isabelle
- Stoddard, Jennifer
- Lenoir, Christelle
- Barlogis, Vincent
- Farnarier, Catherine
- Vely, Frédéric
- Yoshida, Nao
- Kojima, Seiji
- Kanegane, Hirokazu
- Hoshino, Akihiro
- Hauck, Fabian
- Lhermitte, Ludovic
- Asnafi, Vahid
- Chen, Shaoying
- Verbsky, James W.
- Calvo, Katherine R.
- Husami, Ammar
- Zhang, Kejian
- Roberts, Joseph
- Hsu, Amy P.
- Holland, Steven M.
- Marsh, Rebecca
- Fischer, Alain
- Fleisher, Thomas A.
- Picard, Capucine
- Latour, Sylvain
- Rosenzweig, Sergio D.
- Venue
- Journal of Clinical Investigation
- Published
- 2018-06-11
- Volume
- 128
- Issue
- 7
- Pages
- 3071-3087
- ISSN
- 0021-9738 (ISSN-L)
- 1558-8238
- PMC
- PMC6026000
- OpenAlex
- W2805128721
- Cited by
- 169
- References
- 45
- Citations by year
- 2026: 8 · 2025: 16 · 2024: 21 · 2023: 23 · 2022: 19 · 2021: 30 · 2020: 30 · 2019: 19 · 2018: 3
- FWCI
- 8.80
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- Agence Nationale de la Recherche, France (ANR-14-CE14-0028-01, ANR-10-IAHU-01)
- Ligue Contre le Cancer, France (Equipe Labellisée)
- Rare Diseases Fondation, France (Exome sequencing)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Keywords
- IKZF1, Ikaros, dominant negative mutation, germline mutations, combined immunodeficiency, T cell deficiency, B-cell immunodeficiency, Pneumocystis carinii pneumonia, T-cell acute lymphoblastic leukemia, DNA-binding domain, haploinsufficiency, naive T cells, dendritic cells, monocyte dysfunction, neutrophil deficiency, B-cell acute lymphoblastic leukemia
- MeSH terms
- Protein Domains, Loss of Function Mutation, Adolescent, Adult, Amino Acid Sequence, B-Lymphocytes, Child, Child, Preschool, Female, Genes, Dominant, Heterozygote, Humans, Immunologic Deficiency Syndromes, Infant, Male, Pedigree, Phenotype, T-Lymphocytes, Sequence Homology, Amino Acid, Germ-Line Mutation, Amino Acid Substitution, Myeloid Cells, Ikaros Transcription Factor, Young Adult
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
