| H01382 | |
| H番号 | H01382 |
| 名称 | 結節性多発動脈炎; 血管炎・自己炎症・免疫不全・血液学的異常症候群; ADA2 欠損症 |
| 概要 | 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. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | CECR1 [HSA:51816] [KO:K19572] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | デキサメタゾン [DR:D00292] デキサメタゾンリン酸エステルナトリウム [DR:D00975] ベタメタゾンリン酸エステルナトリウム [DR:D00972] トリアムシノロンアセトニド [DR:D00983] ベタメタゾン [DR:D00244] プレドニゾロン [DR:D00472] メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751] アザチオプリン [DR:D00238] シクロホスファミド水和物 [DR:D00287] |
| コメント | - |
| リンク | ICD-11: 4A44.4 ICD-10: M30.0 MeSH: D010488 OMIM: 615688 |
| 文献 | PMID:24552285 著者 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 タイトル Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 雑誌 N Engl J Med 370:921-31 (2014) DOI:10.1056/NEJMoa1307362 PMID:16148731 著者 Guillevin L, Mahr A, Callard P, Godmer P, Pagnoux C, Leray E, Cohen P タイトル Hepatitis B virus-associated polyarteritis nodosa: clinical characteristics, outcome, and impact of treatment in 115 patients. 雑誌 Medicine (Baltimore) 84:313-22 (2005) DOI:10.1097/01.md.0000180792.80212.5e |