H. Matthews

发表

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

J. McElwee, J. Casanova, S. Tangye, 2017, The Journal of experimental medicine.

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

J. Hughes, J. McElwee, Y. Zhang, 2015, Science.

DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity

Scott N. Mueller, Judith N. Mandl, R. Germain, 2014, The Journal of experimental medicine.

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.

R. Geha, S. Holland, D. Douek, 2014, The Journal of allergy and clinical immunology.

Combined immunodeficiency associated with DOCK8 mutations.

S. Holland, Joie Davis, M. Turner, 2009, The New England journal of medicine.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Elisha D O Roberson, Carol J. Saunders, Lina Karam, 2015, Blood.

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.

T. Molina, A. Fischer, S. Nejentsev, 2016, The Journal of allergy and clinical immunology.

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

J. Hughes, J. McElwee, M. Biancalana, 2014, The Journal of experimental medicine.

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

Andrew J. Oler, J. Hughes, J. McElwee, 2017, The Journal of experimental medicine.

Clinical and immunologic phenotype associated with activated ă phosphoinositide 3-kinase delta syndrome 2: A cohort study

T. Molina, A. Fischer, S. Nejentsev, 2016 .

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

Andrew J. Oler, Ryan J. Carlson, J. Hughes, 2016, Nature Genetics.

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

Helen F. Matthews, A. Schinzel, D. Lillington, 1991, Journal of medical genetics.

Mg2+ Regulates Cytotoxic Functions of NK and CD8 T Cells in Chronic EBV Infection Through NKG2D

S. Pittaluga, M. Biancalana, T. Kuijpers, 2013, Science.

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Kyle W. Binder, M. Mann, S. Pittaluga, 2019, The Journal of clinical investigation.

Germline hypomorphic CARD11 mutations in severe atopic disease

J. McElwee, Yuan Zhang, E. Meffre, 2017, Nature Genetics.

Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation.

A. Fischer, A. Durandy, J. Stinson, 2015, The Journal of allergy and clinical immunology.

Congenital B cell lymphocytosis explained by novel germline CARD11 mutations

L. Staudt, W. Xiao, M. Raffeld, 2012, The Journal of experimental medicine.

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

D. Douek, G. Uzel, M. Lenardo, 2011, Nature.

Signaling role for Mg2+ revealed by immunodeficiency due to loss of MagT1

D. Douek, G. Uzel, M. Lenardo, 2011, Nature.

A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease

S. Rosenzweig, S. Price, M. Lenardo, 2021, Journal of Clinical Immunology.

Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia (XMEN)

T. Kuijpers, G. Uzel, M. Lenardo, 2014, European Journal of Human Genetics.

XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.

G. Uzel, M. Lenardo, B. Chaigne-Delalande, 2014, Blood.

Blood Spotlight XMEN disease: a new primary immunodeficiency affecting Mg regulation of immunity against Epstein-Barr virus

G. Uzel, M. Lenardo, B. Chaigne-Delalande, 2014 .

Human immunodeficiency reveals GIMAP5 as lymphocyte-specific regulator of senescence

R. Lifton, M. Lenardo, H. Su, 2021, bioRxiv.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Kenneth G. C. Smith, R. Döffinger, Y. Modis, 2019, The Journal of experimental medicine.

Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.

Braden D. Siempelkamp, J. McElwee, J. Burke, 2017, The Journal of allergy and clinical immunology.

The new england journal of medicine Combined Immunodeficiency Associated with DOCK 8 Mutations

S. Holland, Joie Davis, M. Turner, 2009 .

CD55 Deficiency, Early‐Onset Protein‐Losing Enteropathy, and Thrombosis

J. McElwee, S. Pittaluga, L. Folio, 2017, The New England journal of medicine.

Immune deficiencies, infection, and systemic immune disordersAutosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

J. Hughes, D. Reich, S. Holland, 2014 .

A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family

M. Raffeld, J. Stinson, A. Snow, 2018, Front. Immunol..

Mucus sialylation determines intestinal host-commensal homeostasis

A. Griffiths, N. Warner, C. Bertozzi, 2022, Cell.

Homozygous IL37 mutation associated with infantile inflammatory bowel disease

Kenneth G. C. Smith, M. Lenardo, H. Su, 2021, Proceedings of the National Academy of Sciences.

Deep immune profiling uncovers novel associations with clinical phenotypes of Multisystem Inflammatory Syndrome in Children (MIS-C)

L. Notarangelo, K. Dobbs, D. Schwartz, 2022, Annals of the Rheumatic Diseases.

Deep immune profiling uncovers novel associations with clinical phenotypes of Multisystem Inflammatory Syndrome in Children (MIS-C)

L. Notarangelo, K. Dobbs, D. Schwartz, 2022, Annals of the Rheumatic Diseases.

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

J. Hughes, J. McElwee, D. Reich, 2014, The Journal of allergy and clinical immunology.

Dual Proteolytic Pathways Govern Glycolysis and Immune Competence

W. Lu, V. Korolchuk, David McDonald, 2014, Cell.

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

O. Sanal, I. Tezcan, Dara M Strauss-Albee, 2012, Journal of Clinical Immunology.

Multi-omics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19

Andrew J. Oler, U. Mudunuri, M. Askenazi, 2021, medRxiv.

Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

J. Hughes, J. McElwee, S. Holland, 2014 .

Human IL-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Y. Modis, L. Notarangelo, P. Pennamen, 2018, bioRxiv.

T. Waldmann, M. Raffeld, S. Pittaluga, 2009, Clinical Cancer Research.