Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus.

ABSTRACT:

Purpose

NLRC4-associated autoinflammatory disease (NLRC4-AID) is an autosomal dominant condition presenting with a range of clinical manifestations which can include macrophage activation syndrome (MAS) and severe enterocolitis. We now report the first homozygous mutation in NLRC4 (c.478G > A, p.A160T) causing autoinflammatory disease with immune dysregulation and find that heterozygous carriers in the general population are at increased risk of developing ulcerative colitis.

Methods

Circulating immune cells and inflammatory markers were profiled and historical clinical data interrogated. DNA was extracted and sequenced using standard procedures. Inflammasome activation assays for ASC speck formation, pyroptosis, and IL-1β/IL-18 secretion confirmed pathogenicity of the mutat

SUBMITTER: Steiner A 

PROVIDER: S-EPMC8821057 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature