Newly recognized Mendelian disorders with rheumatic manifestations.

ABSTRACT:

Purpose of review

We review newly discovered monogenic immune-dysregulatory disorders that were reported in Pubmed over the last year.

Recent findings

Fourteen novel monogenic immune-dysregulatory disorders that present with innate and acquired/adaptive immune dysregulation and inflammatory clinical phenotypes were identified. These include autosomal-dominant gain-of function mutations in viral innate immune sensors or their adaptors, TMEM173/STING IFIH1/MDA5 and DDX58/RIG-I that cause complex clinical syndromes distinct from IL-1-mediated diseases and present with a chronic type I interferon (IFN Type I) signature in peripheral blood. Gain-of-function mutations in NLRC4 add a novel inflammasome disorder associated with predisposition to macrophage-activation syndrome and hi

SUBMITTER: de Jesus AA 

PROVIDER: S-EPMC4565793 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature