| H01382 | |
| H number | H01382 |
| Name | Polyarteritis nodosa; Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome; ADA2 deficiency |
| Description | Polyarteritis nodosa, also known as vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS), is a systemic necrotizing vasculitis that affects medium and small muscular arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. In most cases, onset of the disease occurred during childhood. Polyarteritis nodosa is most often primary. Recessive mutations in the adenosine deaminase 2 (ADA2)-encoding gene CECR1 have been found from patients of this disease. |
| Category | Immune system disease |
| Network | - |
| Gene | CECR1 [HSA:51816] [KO:K19572] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A44.4 ICD-10: M30.0 MeSH: D010488 OMIM: 615688 |
| Reference | PMID:24552285 AUTHORS Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E TITLE Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. JOURNAL N Engl J Med 370:921-31 (2014) DOI:10.1056/NEJMoa1307362 PMID:16148731 AUTHORS Guillevin L, Mahr A, Callard P, Godmer P, Pagnoux C, Leray E, Cohen P TITLE Hepatitis B virus-associated polyarteritis nodosa: clinical characteristics, outcome, and impact of treatment in 115 patients. JOURNAL Medicine (Baltimore) 84:313-22 (2005) DOI:10.1097/01.md.0000180792.80212.5e |