B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans

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B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

B-cell survival depends on signals induced by B-cell activating factor (BAFF) binding to its receptor (BAFF-R). In mice, mutations in BAFF or BAFF-R cause B-cell lymphopenia and antibody deficiency. Analyzing BAFF-R expression and BAFF-binding to B cells in common variable immunodeficiency (CVID) patients, we identified two siblings carrying a homozygous deletion in the BAFF-R gene. Removing mo...

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ژورنال

عنوان ژورنال: Proceedings of the National Academy of Sciences

سال: 2009

ISSN: 0027-8424,1091-6490

DOI: 10.1073/pnas.0903543106