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

@article{Feldmann2002ChronicIN,
  title={Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.},
  author={J{\'e}r{\^o}me Feldmann and A Prieur and Pierre Quartier and Patrick Berquin and St{\'e}phanie Certain and Elisabetta Cortis and Dominique Teillac-Hamel and Alain Fischer and Genevi{\`e}ve de Saint Basile},
  journal={American journal of human genetics},
  year={2002},
  volume={71 1},
  pages={198-203}
}
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… CONTINUE READING
Highly Influential
This paper has highly influenced 13 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS

Citations

Publications citing this paper.
Showing 1-10 of 245 extracted citations

Gene hunting in autoinflammation

Clinical and translational allergy • 2013
View 4 Excerpts
Highly Influenced

Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study

Journal of Clinical Immunology • 2012
View 8 Excerpts
Highly Influenced

Nlrp3: an immune sensor of cellular stress and infection.

The international journal of biochemistry & cell biology • 2010
View 6 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…