Open AccessCytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome
Author(s) -
Alfredo Adán,
Manel Solé,
Borja Corcóstegui,
Ricard Navarro,
Anniken Burés
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.09.2008.0992
Subject(s) - medicine , nalp3 , anakinra , inflammation , immunology , macrophage activation syndrome , aseptic meningitis , disease , pathology , arthritis , inflammasome , cerebrospinal fluid
The CINCA syndrome is an inflammatory disease characterised by persistent rash and chronic aseptic meningitis, with extensive infiltration of polymorphonuclear and macrophage cells at the sites of inflammation. The CINCA syndrome belongs to the group of systemic autoinflammatory diseases characterised by episodic or fluctuating degrees of inflammation, without evidence of high-titre autoantibodies or antigen-specific T cells. The disease is caused by mutations in the CIAS1 gene that encodes a protein cryopyrin, NALP3 or PYPAF1. Mutations in cryopyrin have a profound pro-inflammatory effect. Cryopyrin is a caspase 1 activator, which in turn causes the activation of interleukin (IL)1ß. The activating mutations of cryopyrin induce an excessive activation of IL1ß, which causes an influx of macrophages and polymorphonuclear cells to the site of inflammation, in our patient, in his eye.