| H01748 | |
| H number | H01748 |
| Name | NLRC4 inflammasomopathy |
| Description | The NLRC4 inflammasomopathies comprise a growing autoinflammatory disease category that spans a broad clinical spectrum from cold urticaria to the autoinflammation with infantile enterocolitis (AIFEC). AIFEC is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation. It was shown that the disease is caused by gain-of-function mutations in NLRC4. NLRC4 protein is known to directly assemble inflammasomes that activate IL-1beta and IL-18. |
| Category | Immune system disease |
| Network | - |
| Gene | NLRC4 [HSA:58484] [KO:K12805] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A6Y ICD-10: D89.8 OMIM: 616050 |
| Reference | PMID:25217959 AUTHORS Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R TITLE An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. JOURNAL Nat Genet 46:1140-6 (2014) DOI:10.1038/ng.3089 PMID:25217960 AUTHORS Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP TITLE Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. JOURNAL Nat Genet 46:1135-9 (2014) DOI:10.1038/ng.3066 PMID:28957823 AUTHORS Romberg N, Vogel TP, Canna SW TITLE NLRC4 inflammasomopathies. JOURNAL Curr Opin Allergy Clin Immunol 17:398-404 (2017) DOI:10.1097/ACI.0000000000000396 |