Michel J. Massaad

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

Haifa H. Jabara, Steven E. Boyden, Janet Chou et al. · Nature Genetics · 2015 · 266 citations · Full text

Primary Immunodeficiency, Autoimmune Disease, Human Retrovirus +10

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

Abdullah Alangari, Abdulrahman Alsultan, Nouran Adly et al. · Journal of Allergy and Clinical Immunology · 2012 · 244 citations · Full text

Primary Immunodeficiency, Immunogenetics, Autoimmune Disease +12

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA

Louis‐Marie Charbonnier, Erin Janssen, Janet Chou et al. · Journal of Allergy and Clinical Immunology · 2014 · 241 citations · Full text

Immunodeficiencies, Genetics, Immunology +16

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

Haifa H. Jabara, Douglas R. McDonald, Erin Janssen et al. · Nature Immunology · 2012 · 219 citations · Full text

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Kerry Dobbs, Cecilia Domínguez Conde, Shen‐Ying Zhang et al. · New England Journal of Medicine · 2015 · 194 citations · Full text

Lymphocyte Development, Adaptive Immune System, Immunodeficiencies +25