%0 Journal Article %T Association between celiac sprue and cryopyrin associated autoinflammatory disorders: a case report %A Marcus Shaker %A Susan Edwards %A Henry Chionuma %A Eric Shamansky %A Hal M Hoffman %J Pediatric Rheumatology %D 2007 %I BioMed Central %R 10.1186/1546-0096-5-12 %X Cryopyrin-associated diseases (cryopyrinopathies) such as familial cold autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS) (MIM # 120100, 191900) result from mutations in the CIAS1 gene [1]. Celiac disease is a polygenic disease with a strong association to specific major histocompatibility Class II antigens. An association between cryopyrinopathies and celiac sprue has not been described.We report a case of cryopyrinopathy and celiac disease in a 2 year-old Caucasian child. She presented with an 8 month history of almost daily fevers lasting 6¨C12 hours, occurring on average four to five times per week, with temperatures as high as 104¡ãF. She was irritable during fevers preferring to be carried when they occurred. Associated symptoms included loose stools, periodic evanescent maculopapular rashes, episodic abdominal discomfort, an intermittent pauciarticular arthralgia of the right knee and ankle without swelling, and episodic conjunctivitis. The family did not recall any worsening of the fever or rash on exposure to cold, heat, or exercise. The history was negative for visual problems, mouth sores, morning stiffness, weakness, muscle pain, photosensitivity, or other skin rash. Growth and development were otherwise normal without any expressive language delay. Family ancestry was Irish, French, and Scandinavian. Family history was notable for celiac disease in a parental sibling but no other history of rheumatologic disease.On examination the patient was afebrile, appeared well, and moved easily about the room. Her weight was 12.4 kg (45th percentile) and the height was 89 cm (61st percentile). Conjunctivae were not injected and the oropharynx was without lesion or exudate. Neck was supple with soft anterior mobile lymph nodes. Lung exam was without rubs and cardiac exam was normal without murmur. Abdomen was soft without organomegaly or masses. There was no clubbing or active rash, gait and station were normal. Musculoskeletal examination was normal w %U http://www.ped-rheum.com/content/5/1/12