Defining combined immunodeficiency

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

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

Erik‐Oliver Glocker, Daniel Kotlarz, Kaan Boztuǧ et al. · New England Journal of Medicine · 2009 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

JM2, encoding a fork head–related protein, is mutated in X-linked autoimmunity–allergic disregulation syndrome

Talal A. Chatila, Frank Blaeser, Nga Ho et al. · Journal of Clinical Investigation · 2000 · 931 citations · Full text

Life Sciences, Genetics, Immunology +17

CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM Syndrome

R.Cutler Allen, Richard J. Armitage, Mary Ellen Conley et al. · Science · 1993 · 827 citations

Life Sciences, Genetics, Immunology +17

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

Ulf Korthäuer, Daniel Graf, Hans Werner Mages et al. · Nature · 1993 · 725 citations

Life Sciences, Cell Biology, Immunology +13