Wayne Bainter

发表

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.

Toshiro K. Ohsumi, R. Geha, J. Chou, 2016, The Journal of allergy and clinical immunology.

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations

R. Hoyos-Bachiloglu, R. Geha, J. Chou, 2017, The Journal of clinical investigation.

A young girl with severe cerebral fungal infection due to card 9 deficiency.

J. Chou, T. Chatila, I. Tezcan, 2018, Clinical immunology.

A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.

Toshiro K. Ohsumi, R. Geha, J. Chou, 2015, The Journal of allergy and clinical immunology.

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).

R. Geha, J. Chou, G. Lefranc, 2020, The Journal of allergy and clinical immunology.

Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.

J. Orange, R. Geha, J. Chou, 2021, The Journal of clinical investigation.

Failure to Thrive

H. N. Tipu, Wayne Bainter, 2019, Pediatric Immunology.

A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection.

R. Geha, J. Chou, W. Al-Herz, 2015, Clinical immunology.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Toshiro K. Ohsumi, N. Andrews, M. Fleming, 2015, Nature Genetics.

Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2.

R. Geha, J. Chou, M. Çakan, 2019, The Turkish journal of pediatrics.

Mutations in pyrin masquerading as a primary immunodeficiency.

R. Geha, J. Chou, M. Massaad, 2016, Clinical immunology.

Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant.

Jared L. Johnson, L. Cantley, R. Geha, 2019, The Journal of allergy and clinical immunology.

Leucine‐rich repeat containing 8A (LRRC8A)–dependent volume‐regulated anion channel activity is dispensable for T‐cell development and function

D. Clapham, R. Geha, J. Chou, 2017, The Journal of allergy and clinical immunology.

A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis.

Michael Seleman, R. Geha, J. Chou, 2017, Clinical immunology.

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population

L. Notarangelo, R. Geha, J. Chou, 2019, Front. Immunol..

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency

M. Afarideh, A. Ghajar, R. Geha, 2017, The Journal of allergy and clinical immunology.

Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.

R. Geha, J. Chou, M. Massaad, 2016, Clinical immunology.

Multi-kingdom ecological drivers of microbiota assembly in preterm infants

R. Geha, Camilia R. Martin, K. Coyte, 2021, Nature.

Multi-kingdom quantitation reveals distinct ecological drivers of predictable early-life microbiome assembly

R. Geha, Camilia R. Martin, K. Coyte, 2020, bioRxiv.

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

V. Lougaris, A. Plebani, R. Hoyos-Bachiloglu, 2021, Science Immunology.

Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration

Toshiro K. Ohsumi, R. Geha, J. Chou, 2017, The Journal of experimental medicine.

Efficacy and economics of targeted panel versus whole exome sequencing in 878 patients with suspected primary immunodeficiency.

R. Geha, J. Chou, Wayne Bainter, 2020, The Journal of allergy and clinical immunology.

Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B cell activation.

R. Hoyos-Bachiloglu, R. Geha, J. Chou, 2019, The Journal of allergy and clinical immunology.

A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens.

R. Geha, J. Chou, W. Al-Herz, 2015, The Journal of allergy and clinical immunology.

The IL-4Rα Q576R polymorphism is associated with increased severity of atopic dermatitis and exaggerates allergic skin inflammation in mice.

K. Barnes, R. Geha, R. Mathias, 2023, The Journal of allergy and clinical immunology.

Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan.

R. Geha, J. Chou, M. Massaad, 2019, Clinical immunology.

A novel mutation in FOXN1 resulting in SCID: a case report and literature review.

R. Geha, J. Chou, M. Massaad, 2014, Clinical immunology.

Recurrent Respiratory Tract Infections

H. N. Tipu, Wayne Bainter, 2019, Pediatric Immunology.

A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.

Toshiro K. Ohsumi, R. Geha, J. Chou, 2015, The Journal of allergy and clinical immunology.