TACI is mutant in common variable immunodeficiency and IgA deficiency

By E. Castigli, S. Wilson, L. Garibyan, R. Rachid, F. Bonilla, L. Schneider, R. Geha. Nature Genetics, 2005

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The regulation of IgA class switching (2008, background): “Similar to mice, humans develop selective IgA deficiency when TNFRSF13b”
Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology. (2006, background): “transmembrane activator and calcium modulator and cyclophilin ligand interactor, which is associated with CVID.(25) Intravenous administration of IGIV can pose a risk of anaphylaxis for IgA-deficient patients who have IgE anti-IgA antibodies(26) or reactions caused by complement activation if IgG an”
Allelic Landscape of Human Blood Cell Trait Variation and Links (2016, background): “For instance, the rare missense variant in TNFRSF13B (rs72553883) causing common variable immunodeficiency and selective immunoglobulin A deficiency (Castigli et al., 2005) was associated with platelet, myeloid white cell and lymphoid white cell indices (Table S4).”
Cracking the BAFF code (2009, background): “Because more than one receptor is required to transmit the signal, the system is susceptible to dominant effects of mutations, as is probably the case in patients with common variable immunodeficiency (CVID) harbouring heterozygous TACI mutation”