KEGG   DISEASE: WHIM 症候群
エントリ  
H00097                                                             
名称    
WHIM 症候群
  上位グループ
自然免疫の障害 [DS:H02525]
原発性免疫不全症 [DS:H01725]
概要    
WHIM (an acronym for warts, hypogammaglobulinemia, infections and myelokathexis, a form of neutropenia) syndrome is a congenital immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and susceptibility to human papillomavirus (HPV) infection. Affected individuals have mutations that variably truncate the cytoplasmic tail domain of CXC chemokine receptor 4 (CXCR4). Leukocytes expressing truncated CXCR4 display enhanced responses to the receptor ligand CXCL12, including chemotaxis, which likely impair their trafficking and contribute to the immunohematologic clinical manifestations of the syndrome.
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
   H00097  WHIM 症候群
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
   4A00  自然免疫の疾患よる原発性免疫不全症
    H00097  WHIM 症候群
関連パスウェイ
hsa04060  Cytokine-cytokine receptor interaction
病因遺伝子 
(WHIMS1) CXCR4 [HSA:7852] [KO:K04189]
(WHIMS2) CXCR2 [HSA:3579] [KO:K05050]
リンク   
ICD-11: 4A00.Y
ICD-10: D81.8
MeSH: C536697
OMIM: 193670 619407
文献    
  著者
Kawai T, Malech HL
  タイトル
WHIM syndrome: congenital immune deficiency disease.
  雑誌
Curr Opin Hematol 16:20-6 (2009)
DOI:10.1097/MOH.0b013e32831ac557
文献    
PMID:18436740 (WHIMS1)
  著者
Lagane B, Chow KY, Balabanian K, Levoye A, Harriague J, Planchenault T, Baleux F, Gunera-Saad N, Arenzana-Seisdedos F, Bachelerie F
  タイトル
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome.
  雑誌
Blood 112:34-44 (2008)
DOI:10.1182/blood-2007-07-102103
文献    
PMID:24777453 (WHIMS2)
  著者
Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dube MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, Rioux JD, Schmidt F, Turcot V, Volker U, Volzke H, Greinacher A, Hsu L, Tardif JC, Diaz GA, Reiner AP, Lettre G
  タイトル
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
  雑誌
Nat Genet 46:629-34 (2014)
DOI:10.1038/ng.2962
LinkDB    

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