Milner, Joshua D.

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,662

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

Milner, J. D., Brenchley, J. M., Laurence, A., Freeman, A. F., Hill, B. J., Elias, K. M., Kanno, Y., Spalding, C., Elloumi, H. Z., Paulson, M. L., et al. (2008) · Nature

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

Cited by 1,157

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 677

Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions

Ombrello, M. J., Remmers, E. F., Sun, G., Freeman, A. F., Datta, S., Torabi-Parizi, P., Subramanian, N., Bunney, T. D., Baxendale, R. W., Martins, M. S., et al. (2012) · New England Journal of Medicine

Immunodeficiency and Autoimmune DisordersInflammasome and immune disorders

Cited by 425

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Lyons, J. J., Yu, X., Hughes, J. D., Le, Q. T., Jamil, A., Bai, Y., Ho, N., Zhao, M., Liu, Y., O'Connell, M. P., et al. (2016) · Nature Genetics

Mast cells and histamineGastrointestinal motility and disorders

Cited by 394

A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

Zhou, Q., Lee, G.-S., Brady, J., Datta, S., Katan, M., Sheikh, A., Martins, M. S., Bunney, T. D., Santich, B. H., Moir, S., et al. (2012) · The American Journal of Human Genetics

Immunodeficiency and Autoimmune DisordersInflammasome and immune disorders

Cited by 374

Heritable risk for severe anaphylaxis associated with increased α-tryptase–encoding germline copy number at TPSAB1

Lyons, J. J., Chovanec, J., O’Connell, M. P., Liu, Y., Šelb, J., Zanotti, R., Bai, Y., Kim, J., Le, Q. T., DiMaggio, T., et al. (2021) · Journal of Allergy and Clinical Immunology

Mast cells and histamineFood Allergy and Anaphylaxis Research

Cited by 230

Extrapulmonary Aspergillus infection in patients with CARD9 deficiency

Rieber, N., Gazendam, R. P., Freeman, A. F., Hsu, A. P., Collar, A. L., Sugui, J. A., Drummond, R. A., Rongkavilit, C., Hoffman, K., Henderson, C., et al. (2016) · JCI Insight

Immunodeficiency and Autoimmune DisordersAntifungal resistance and susceptibility

Cited by 171

Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities

Lyons, J. J., Sun, G., Stone, K. D., Nelson, C., Wisch, L., O'Brien, M., Jones, N., Lindsley, A., Komarow, H. D., Bai, Y., et al. (2014) · Journal of Allergy and Clinical Immunology

Mast cells and histamineAsthma and respiratory diseases

Cited by 136

Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation

Siegel, A. M., Stone, K. D., Cruse, G., Lawrence, M. G., Olivera, A., Jung, M.-Y., Barber, J. S., Freeman, A. F., Holland, S. M., O'Brien, M., et al. (2013) · Journal of Allergy and Clinical Immunology

Immunodeficiency and Autoimmune DisordersMast cells and histamine

Cited by 131

Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia

Le, Q. T., Lyons, J. J., Naranjo, A. N., Olivera, A., Lazarus, R. A., Metcalfe, D. D., Milner, J. D., & Schwartz, L. B. (2019) · Journal of Experimental Medicine

Mast cells and histamineProtease and Inhibitor Mechanisms

Cited by 126

A mouse model of HIES reveals pro- and anti-inflammatory functions of STAT3

Steward-Tharp, S. M., Laurence, A., Kanno, Y., Kotlyar, A., Villarino, A. V., Sciume, G., Kuchen, S., Resch, W., Wohlfert, E. A., Jiang, K., et al. (2014) · Blood

Immunodeficiency and Autoimmune DisordersCytokine Signaling Pathways and Interactions

Cited by 87

PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes

Milner, J. D. (2015) · Journal of Clinical Immunology

Immunodeficiency and Autoimmune DisordersInflammasome and immune disorders

Cited by 85

Genetics of allergy and allergic sensitization: common variants, rare mutations

Bønnelykke, K., Sparks, R., Waage, J., & Milner, J. D. (2015) · Current Opinion in Immunology

Allergic Rhinitis and SensitizationAsthma and respiratory diseases

Cited by 73

First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease

Sabato, V., Chovanec, J., Faber, M., Milner, J. D., Ebo, D., & Lyons, J. J. (2018) · Journal of Clinical Immunology

Mast cells and histamineImmunodeficiency and Autoimmune Disorders

Cited by 73

Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis

Hox, V., O'Connell, M. P., Lyons, J. J., Sackstein, P., Dimaggio, T., Jones, N., Nelson, C., Boehm, M., Holland, S. M., Freeman, A. F., et al. (2016) · Journal of Allergy and Clinical Immunology

Mast cells and histamineImmunodeficiency and Autoimmune Disorders

Cited by 64

Clinical relevance of inherited genetic differences in human tryptases

Glover, S. C., Carter, M. C., Korošec, P., Bonadonna, P., Schwartz, L. B., Milner, J. D., Caughey, G. H., Metcalfe, D. D., & Lyons, J. J. (2021) · Annals of Allergy, Asthma & Immunology

Mast cells and histamineFood Allergy and Anaphylaxis Research

Cited by 64

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Baysac, K., Sun, G., Nakano, H., Schmitz, E. G., Cruz, A. C., Fisher, C., Bailey, A. C., Abbott, J. K., Aldave Becerra, J. C., Allenspach, E. J., et al. (2024) · Journal of Allergy and Clinical Immunology

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

Cited by 63

Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms

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

Mast cells and histamineGenomics and Rare Diseases

Cited by 62

Mast cell activation syndrome: Current understanding and research needs

Castells, M., Giannetti, M. P., Hamilton, M. J., Novak, P., Pozdnyakova, O., Nicoloro-SantaBarbara, J., Jennings, S. V., Francomano, C., Kim, B., Glover, S. C., et al. (2024) · Journal of Allergy and Clinical Immunology

Mast cells and histamineFood Allergy and Anaphylaxis Research

Cited by 45

The autoinhibitory C-terminal SH2 domain of phospholipase C–γ2 stabilizes B cell receptor signalosome assembly

Wang, J., Sohn, H., Sun, G., Milner, J. D., & Pierce, S. K. (2014) · Science Signaling

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

Cited by 36

Mast cell activation syndrome: Importance of consensus criteria and call for research

Valent, P., Akin, C., Bonadonna, P., Hartmann, K., Broesby-Olsen, S., Brockow, K., Butterfield, J. H., Reiter, A., Gotlib, J., Castells, M., et al. (2018) · Journal of Allergy and Clinical Immunology

Mast cells and histamineFood Allergy and Anaphylaxis Research

Cited by 34

A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number

Lyons, J. J., Stotz, S. C., Chovanec, J., Liu, Y., Lewis, K. L., Nelson, C., DiMaggio, T., Jones, N., Stone, K. D., Sung, H., et al. (2018) · Genetics in Medicine

Ion channel regulation and functionGenetic Associations and Epidemiology

Cited by 30

Functional characterization of phospholipase C-γ2 mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder

Walliser, C., Wist, M., Hermkes, E., Zhou, Y., Schade, A., Haas, J., Deinzer, J., Désiré, L., Li, S. S. C., Stilgenbauer, S., et al. (2018) · Oncotarget

Chronic Lymphocytic Leukemia ResearchImmunodeficiency and Autoimmune Disorders

Cited by 17