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IgA deficiency

Wednesday 8 March 2006

Pathology

- germline mutations of TNFRSF13B

  • The tumor necrosis factor receptor family member TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) mediates isotype switching in B cells.
  • The functional interaction of BAFF and APRIL with TNF receptor superfamily members BAFFR, TNFRSF13B (TACI) and BCMA is crucial for development and maintenance of humoral immunity in mice and humans.

References

- Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schaffer AA, Hammarstrom L, Grimbacher B. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005 Aug;37(8):820-8. PMID: 16007087

- Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, Geha RS. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005 Aug;37(8):829-34. PMID: 16007086