Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

By Jérôme Feldmann, A. Prieur, P. Quartier, P. Berquin, S. Certain, E. Cortis, D. Teillac-Hamel, A. Fischer, G. de Saint Basile. American Journal of Human Genetics, 2002

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Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central-nervous-system involvement, and arthropathy. In the present study, we report, in seven unrelated patients with CINCA syndrome, distinct missense mutations within the nucleotide-binding site of CIAS1, a gene encoding cryopyrin and previously shown to cause Muckle-Wells syndrome and familial cold urticaria. Because of the severe cartilage overgrowth observed in some patients with CINCA syndrome and the implications of polymorphonuclear cell infiltration in the cutaneous and neurological manifestations of this syndrome, the tissue-specific expression of CIAS1 was evaluated. A high level of expression of CIAS1 was found to be restricted to polymorphonuclear cells and chondrocytes. These findings demonstrate that CIAS1 missense mutations can result in distinct phenotypes with only a few overlapping symptoms and suggest that this gene may function as a potential inducer of apoptosis.

Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/b5318c4f2a3c38e6eed8f4318ec7675360303e6c

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Citations in the corpus

Inflammasomes and their roles in health and disease. (2012, background): “The primary symptoms of CAPS patients are urticarial skin rashes and prolonged episodes of fever, but arthralgia, sensorineural hearing loss, headaches, elevated spinal fluid pressure, cognitive deficits, and renal amyloidosis also may be observed (Feldmann et al. 2002, Hoffman et al. 2001).”
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. (2002, background): “Feldmann and colleagues (33) also described a mutation-negative patient with skin and joint inflammation but without evidence of chronic meningitis.”
Pathogen Recognition and Inflammatory Signaling in Innate Immune Defenses (2009, background): “Patients with the syndromes neonatal-onset multisystem inflammatory disease, familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and familiary Mediterranean fever suffer from periodic attacks of fever and inflammation (86, 233).”
Mechanisms and functions of inflammasomes. (2014, background): “These diseases produce urticarial skin rashes and prolonged episodes of fever, and a significant number of patients have gain-of-function mutations in NLRP3 (Feldmann et al., 2002; Hoffman et al., 2001).”
NALPs: a novel protein family involved in inflammation (2003, background): “Patients with hereditary fever syndromes and chronic inflammatory diseases who carry mutations in the NACHT domain of NALP3 have recently been identifie”
Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). (2009, background): “The cryopyrinopathies are due to autosomal dominant or de novo mutations of NLRP3 (7, 14, 15).”
Caspase functions in cell death and disease. (2013, background): “Mutations in NLRP3 cause three rare inherited autoinflammatory diseases known collectively as cryopyrin-associated periodic syndromes (CAPS) (Hoffman et al. 2001; Aksentijevich et al. 2002; Feldmann et al. 2002).”