KEGG   DISEASE: アデノシンデアミナーゼ欠損症
エントリ  
H02309                                                             
名称    
アデノシンデアミナーゼ欠損症
  上位グループ
T-B- 重症複合免疫不全症 [DS:H00092]
獲得免疫の障害 [DS:H02526]
原発性免疫不全症 [DS:H01725]
概要    
Adenosine deaminase (ADA) deficiency causes severe combined immunodeficiency disease (SCID). Profound lymphopenia in this disorder has been attributed to toxic levels of ADA substrates, particularly deoxyadenosine, generated from nucleic acid breakdown associated with cell turnover in marrow, thymus, and lymph nodes. Most patients have SCID, which is usually diagnosed in infancy and is often fatal, but some patients are diagnosed later in childhood or as adults. More than 50 ADA mutations are known. Most patients are heteroallelic, and most alleles are rare.
カテゴリ  
免疫系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  原発性免疫不全症
   4A01  獲得免疫の疾患よる原発性免疫不全症
    H02309  アデノシンデアミナーゼ欠損症
パスウェイ 
hsa00230  Purine metabolism
hsa05340  Primary immunodeficiency
病因遺伝子 
ADA [HSA:100] [KO:K01488]
治療薬   
エラペグアデマーゼ [DR:D11017]
リンク   
ICD-11: 4A01.10
MeSH: C531816
OMIM: 102700
文献    
PMID:9758612
  著者
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS
  タイトル
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
  雑誌
Am J Hum Genet 63:1049-59 (1998)
DOI:10.1086/302054
文献    
PMID:12089448
  著者
Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, Morecki S, Andolfi G, Tabucchi A, Carlucci F, Marinello E, Cattaneo F, Vai S, Servida P, Miniero R, Roncarolo MG, Bordignon C
  タイトル
Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning.
  雑誌
Science 296:2410-3 (2002)
DOI:10.1126/science.1070104
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