Article
CVID-associated TACI mutations affect autoreactive B cell selection and activation.
The Journal of clinical investigation - 1 Oct 2013
Romberg Neil, Chamberlain Nicolas, Saadoun David, Gentile Maurizio, Kinnunen Tuure, Ng Yen Shing, Virdee Manmeet, Menard Laurence, Cantaert Tineke, Morbach Henner, Rachid Rima, Martinez-Pomar Natalia, Matamoros Nuria, Geha Raif, Grimbacher Bodo, Cerutti Andrea, Cunningham-Rundles Charlotte, Meffre Eric
Abstract excerpt
Common variable immune deficiency (CVID) is an assorted group of primary diseases that clinically manifest with antibody deficiency, infection susceptibility, and autoimmunity. Heterozygous mutations in the gene encoding the tumor necrosis factor receptor superfamily member TACI are associated with CVID and autoimmune manifestations, whereas two mutated alleles prevent autoimmunity. To assess how the number of...
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