Syndromic multisystem autoimmune disease

Syndromic multisystem autoimmune disease is characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut. It has been reported that human ITCH E3 ubiquitin ligase deficiency causes this disease.

Immune system disease

ITCH [HSA:83737] [KO:K05632]

PMID:20170897

Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG

Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

Am J Hum Genet 86:447-53 (2010)
DOI:10.1016/j.ajhg.2010.01.028