KEGG   DISEASE: 乳児発症多臓器自己免疫疾患
エントリ  
H02540                                                             
名称    
乳児発症多臓器自己免疫疾患
概要    
Infantile-onset multisystem autoimmune disease (ADMIO) is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis.
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
  非器官特異的全身性自己免疫疾患
   4A43  重複または未分化の非器官特異的全身性自己免疫疾患
    H02540  乳児発症多臓器自己免疫疾患
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06518  JAK-STAT シグナリング
   H02540  乳児発症多臓器自己免疫疾患
 免疫系
  nt06537  TCR/BCR シグナリング
   H02540  乳児発症多臓器自己免疫疾患
パスウェイ 
hsa04630  JAK-STAT signaling pathway
hsa04660  T cell receptor signaling pathway
ネットワーク
nt06518 JAK-STAT signaling
nt06537 TCR/BCR signaling
病因遺伝子 
(ADMIO1) STAT3 [HSA:6774] [KO:K04692]
(ADMIO2) ZAP70 [HSA:7535] [KO:K07360]
(ADMIO3) CBLB [HSA:868] [KO:K22517]
リンク   
ICD-11: 4A43.Y
MeSH: D001327
OMIM: 615952 617006 620430
文献    
  著者
Terry J, Langlois S, Rupps R, Gill H
  タイトル
Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation.
  雑誌
Pediatr Dev Pathol 23:306-311 (2020)
DOI:10.1177/1093526619890734
文献    
PMID:25038750 (ADMIO1)
  著者
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppanen M, Lernmark A, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT
  タイトル
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
  雑誌
Nat Genet 46:812-814 (2014)
DOI:10.1038/ng.3040
文献    
PMID:26783323 (ADMIO2)
  著者
Chan AY, Punwani D, Kadlecek TA, Cowan MJ, Olson JL, Mathes EF, Sunderam U, Fu SM, Srinivasan R, Kuriyan J, Brenner SE, Weiss A, Puck JM
  タイトル
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
  雑誌
J Exp Med 213:155-65 (2016)
DOI:10.1084/jem.20150888
文献    
PMID:36006710 (ADMIO3)
  著者
Janssen E, Peters Z, Alosaimi MF, Smith E, Milin E, Stafstrom K, Wallace JG, Platt CD, Chou J, El Ansari YS, Al Farsi T, Ameziane N, Al-Ali R, Calvo M, Rocha ME, Bauer P, Al-Sannaa NA, Al Sukaiti NF, Alangari AA, Bertoli-Avella AM, Geha RS
  タイトル
Immune dysregulation caused by homozygous mutations in CBLB.
  雑誌
J Clin Invest 132:154487 (2022)
DOI:10.1172/JCI154487
LinkDB    

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