Hans D. Ochs

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell et al. · Nature Genetics · 2001 · 3.4K citations

Life Sciences, Genetics, Immunology +13

Chronic Granulomatous Disease: Report on a National Registry of 368 Patients

Jerry A. Winkelstein, Mary C. Marino, Richard B. Johnston et al. · Medicine · 2000 · 1.7K citations

Medicine, Dermatology, Internal Medicine +5

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Stuart G. Tangye, Waleed Al–Herz, Aziz Bousfiha et al. · Journal of Clinical Immunology · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Immunology +16

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

Alejandro Aruffo, Mary Farrington, Diane Hollenbaugh et al. · Cell · 1993 · 824 citations

Life Sciences, Immunology, Molecular Genetics +11

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Capucine Pïcard, H. Bobby Gaspar, Waleed Al–Herz et al. · Journal of Clinical Immunology · 2017 · 795 citations · Full text

Life Sciences, Immunology, Autoimmunity +10