First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Patrick Revy, Taro Muto, Yves Lévy et al. · Cell · 2000 · 1.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

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

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Rainer Döffinger, Asma Smahi, Christine Bessia et al. · Nature Genetics · 2001 · 819 citations

Life Sciences, Genetics, Molecular Genetics +13