Blau syndrome

Blau syndrome
Classification and external resources

Coarse facial features in a boy with Blau syndrome
OMIM 186580
DiseasesDB 32725

Blau syndrome is characterized by familial granulomatous arthritis, iritis, and skin granulomas, comprising an autosomal dominantly inherited syndrome that overlaps both sarcoidosis and granuloma annulare.[1][2] Restated, Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies, and exanthema.[3] Camptodactyly is another feature, and Crohn's disease occurs in 30%.[4]

It is associated with mutations in the NOD2 (a.k.a. CARD15) gene.

See also

References

  1. ^ Freedberg et. al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 983. ISBN 0071380760. 
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 149. ISBN 0721629210. 
  3. ^ Ferrero-Miliani L, Nielsen OH, Andersen PS, Girardin SE (February 2007). "Chronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generation". Clin. Exp. Immunol. 147 (2): 227–35. doi:10.1111/j.1365-2249.2006.03261.x. PMC 1810472. PMID 17223962. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1810472. 
  4. ^ Geha RS, Notarangelo LD (October 2007). "The International Union of Immunological Societies (IUIS) Primary Immunodeficiency Diseases (PID) Classification Committee". Journal of Allergy and Clinical Immunology 147 (4): 776–794. doi:10.1016/j.jaci.2007.08.053. PMC 2601718. PMID 17952897. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2601718.