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Expert
Reviews in Molecular Medicine: http://www.expertreviews.org/
Accession information: Vol. 7; Issue 22; 11 October 2005 Abstract
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Mutated genes identified in hereditary periodic fever syndromes
Silvia Stojanov and Michael F. McDermott
| Table 1. Mutated genes identified in hereditary periodic fever syndromes | |||
| Hereditary periodic fever syndrome | Inheritance | Gene; chromosome | Encoded protein |
| FMF | Autosomal recessive | MEFV; 16p13 | Pyrin/marenostrin |
| HIDS | Autosomal recessive | MVK; 12q24 | Mevalonate kinase |
| TRAPS | Autosomal dominant | TNFRSF1A; 12p13 | TNFRSF1A |
| FCAS | Autosomal dominant | CIAS1/NALP3; 1q44 | Cryopyrin/NALP3 |
| MWS | Autosomal dominant | CIAS1/NALP3; 1q44 | Cryopyrin/NALP3 |
| CINCA/NOMID | Autosomal dominant or de novo | CIAS1/NALP3; 1q44 | Cryopyrin/NALP3 |
| Abbreviations: FMF, familial Mediterranean fever; HIDS, hyperimmunoglobulinaemia D and periodic fever syndrome; FCAS, familial cold autoinflammatory syndrome; MWS, Muckle–Wells syndrome; CINCA/ NOMID, chronic infantile neurological cutaneous and articular syndrome or neonatal-onset multisystemic inflammatory disease; TNFRSF1A, tumour necrosis factor receptor superfamily 1A; TRAPS, tumour necrosis factor receptor (TNFR)-associated periodic syndrome. | |||
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