Blau syndrome
| Blau syndrome | |
|---|---|
 Coarse facial features in a boy with Blau syndrome | |
| Classification and external resources | |
| OMIM | 186580 |
| DiseasesDB | 32725 |
Multiple, reddish-brown papules coalescing over the right arm in a boy with Blau syndrome
Blau syndrome is characterized by familial granulomatous arthritis, uveitis, 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
- ↑ Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 983. ISBN 0-07-138076-0.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 149. ISBN 0-7216-2921-0.
- ↑ 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.
- ↑ 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 120 (4): 776–794. doi:10.1016/j.jaci.2007.08.053. PMC 2601718. PMID 17952897.
Bibliography
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