TACI Is Mutant In Common Variable Immunodeficiency And IgA Deficiency

Bodo Grimbacher and colleagues report the identification of a gene defective in several families and unrelated individuals with CVID. In an accompanying study, Raif Geha and colleagues report defects in the same gene in individuals with either CVID or IgAD. The gene, encoding the protein TACI, is involved in switching between antibody types in antibody-producing white blood cells.

CVID and IgAD have common and diverse clinical presentations but are particularly characterized by increased risk of infection and autoimmune disorders. A mixture of genetic and environmental factors is thought to influence risk of developing these syndromes but the underlying genetic causes of CVID are largely unknown. CVID and IgAD are often found in the same families, and so a common genetic basis for these syndromes has long been suspected.
Author Contacts:

Bodo Grimbacher (University Hospital Freiburg, Germany)
E-mail: grimbacher@medizin.ukl.uni-freiburg.de

Raif S. Geha (Children's Hospital, Boston, MA, USA)
E-mail: raif.geha@childrens.harvard.edu

Also published online: Paper #1; Paper #2.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza