DISEASE: WHIM syndrome


Entry
H00097                      Disease                                
Name
WHIM syndrome
  Supergrp
Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]
Description
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.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00097  WHIM syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H00097  WHIM syndrome
Related
pathway
hsa04060  Cytokine-cytokine receptor interaction
Gene
(WHIMS1) CXCR4 [HSA:7852] [KO:K04189]
(WHIMS2) CXCR2 [HSA:3579] [KO:K05050]
Other DBs
ICD-11: 4A00.Y
ICD-10: D81.8
MeSH: C536697
OMIM: 193670 619407
Reference
PMID:19057201
  Authors
Kawai T, Malech HL
  Title
WHIM syndrome: congenital immune deficiency disease.
  Journal
Curr Opin Hematol 16:20-6 (2009)
DOI:10.1097/MOH.0b013e32831ac557
Reference
PMID:18436740 (WHIMS1)
  Authors
Lagane B, Chow KY, Balabanian K, Levoye A, Harriague J, Planchenault T, Baleux F, Gunera-Saad N, Arenzana-Seisdedos F, Bachelerie F
  Title
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome.
  Journal
Blood 112:34-44 (2008)
DOI:10.1182/blood-2007-07-102103
Reference
PMID:24777453 (WHIMS2)
  Authors
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
  Title
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
  Journal
Nat Genet 46:629-34 (2014)
DOI:10.1038/ng.2962

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Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (3)   
   PubMed (3)   
All databases (9)   

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