Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

Life Sciences, Bioinformatics, Molecular Biology +15

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

LOVD v.2.0: the next generation in gene variant databases

Ivo F.A.C. Fokkema, Peter E.M. Taschner, Gerard C. P. Schaafsma et al. · Human Mutation · 2011 · 1.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

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