Molecular basis of common variable immunodeficiency - 17/08/11
, Raif S. Geha, MD
Reprint requests: Emanuela Castigli, DSc, Division of Immunology, Children’s Hospital, 300 Longwood Ave, Boston, MA 02115.Boston, MassThis activity is available for CME credit. See page 40A for important information.
Abstract |
Common variable immunodeficiency (CVID) is the most prevalent human primary immunodeficiency requiring medical attention. Until recently, the only known genetic defect specific to CVID was the inducible costimulatory receptor (ICOS) deficiency, which accounts for less than 1% of the patients. Recently, mutations in the TNF receptor family member transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI), which mediates isotype switching in B cells, were found to be present in 10% to 20% of patients with CVID. Mutations in TACI were also found in relatives of patients with CVID who had IgA deficiency (IgAD), as well as in a patient with isolated IgAD. In the majority of patients described to date, only one TACI allele is mutated, showing an autosomal dominant transmission of the disease. B cells from individuals with TACI mutations did not produce IgG and IgA in response to the TACI ligand a proliferation-inducing ligand (APRIL), probably reflecting impaired isotype switching. These results suggest that TACI mutations can lead to CVID and IgAD.
Le texte complet de cet article est disponible en PDF.Key words : Common variable immunodeficiency, IgA deficiency, TNF receptor, B cells, transmembrane activator and calcium-modulator and cyclophilin ligand interactor mutations
Abbreviations used : aa, AID, APRIL, BAFF, BCMA, CAML, CD40L, CH, CRD, CSR, CVID, ICOS, IgAD, NF-AT, TACI, TD, TI, TNFR, TRAF, WT
Plan
| (Supported by an unrestricted educational grant from Genentech, Inc. and Novartis Pharmaceuticals Corporation) Series editors: William T. Shearer, MD, PhD, Lanny J. Rosenwasser, MD, and Bruce S. Bochner, MD |
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| Disclosure of potential conflict of interest: The authors have declared they have no conflict of interest. |
Vol 117 - N° 4
P. 740-746 - avril 2006 Retour au numéro
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