You are using an outdated browser. Please upgrade your browser to improve your experience.

autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies.
Mondo Term and Equivalent IDs
MONDO:0013944:  autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Orphanet:324530: 
UMLS:C3553961: