KEGG   DISEASE: T-B- 重症複合免疫不全症
エントリ  
H00092                                                             
名称    
T-B- 重症複合免疫不全症
  下位グループ
アデノシンデアミナーゼ欠損症 [DS:H02309]
細網異形成症 [DS:H01128]
Omenn 症候群 [DS:H02554]
  上位グループ
獲得免疫の障害 [DS:H02526]
原発性免疫不全症 [DS:H01725]
概要    
Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. Adenosine deaminase (ADA) deficiency accounts for about half of the autosomal recessive forms of SCIDs. It is one of the most severe immunodeficiencies and is associated with severe depletion of B cells, T cells, and NK cells. V(D)J- recombination deficiency caused by defects in recombinase-activating gene 1 (RAG1), RAG2 and Artemis (DCLRE1C) leads to a T-B-SCID phenotype that is characterized by an arrest of B- and T-cell maturation at the stage of pro-B and pre-T cells, respectively, whereas natural killer (NK)-cell maturation is not affected. V(D)J recombination generates the diversity of B- and T-cell primary immune repertoires.
カテゴリ  
原発性免疫不全症候群
階層分類  
ヒト疾患 [BR:jp08402]
 免疫系疾患
  原発性免疫不全症候群
   H00092  T-B- 重症複合免疫不全症
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
    H00092  T-B- 重症複合免疫不全症
パスウェイ 
hsa05340  原発性免疫不全症候群
関連パスウェイ
hsa03450  Non-homologous end-joining
病因遺伝子 
ADA [HSA:100] [KO:K01488]
RAG1 [HSA:5896] [KO:K10628]
RAG2 [HSA:5897] [KO:K10988]
DCLRE1C [HSA:64421] [KO:K10887]
AK2 [HSA:204] [KO:K00939]
PRKDC [HSA:5591] [KO:K06642]
リンク   
ICD-11: 4A01.10
ICD-10: D81
MeSH: C563440
OMIM: 102700 601457 602450 267500 615966
文献    
  著者
de Villartay JP, Fischer A, Durandy A.
  タイトル
The mechanisms of immune diversification and their disorders.
  雑誌
Nat Rev Immunol 3:962-72 (2003)
DOI:10.1038/nri1247
文献    
PMID:9737224
  著者
Ten RM.
  タイトル
Primary immunodeficiencies.
  雑誌
Mayo Clin Proc 73:865-72 (1998)
DOI:10.4065/73.9.865
文献    
  著者
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
  タイトル
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
  雑誌
J Clin Immunol 35:696-726 (2015)
DOI:10.1007/s10875-015-0201-1
文献    
PMID:17952897 (RAG1, RAG2, DCLRE1C, ADA)
  著者
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
  タイトル
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  雑誌
J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053
文献    
PMID:19043417 (AK2)
  著者
Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K
  タイトル
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
  雑誌
Nat Genet 41:101-5 (2009)
DOI:10.1038/ng.265
文献    
PMID:19075392 (PRKDC)
  著者
van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC
  タイトル
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
  雑誌
J Clin Invest 119:91-8 (2009)
DOI:10.1172/JCI37141
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