KEGG   DISEASE: H00097Help
Entry
H00097                      Disease                                

Name
Chemokine receptor defect, including the following disease:
WHIM syndrome
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 hierarchy
Pathway
Cytokine-cytokine receptor interaction
Gene
CXCR4 [HSA:7852] [KO:K04189]
Other DBs
OMIM: 
Reference
PMID:18436740 (description, gene)
  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)
Reference
PMID:19057201 (description, gene)
  Authors
Kawai T, Malech HL
  Title
WHIM syndrome: congenital immune deficiency disease.
  Journal
Curr Opin Hematol 16:20-6 (2009)
Reference
PMID:17162365 (gene)
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
Reference
PMID:18424339 (gene)
  Authors
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
  Title
Genetic diagnosis of primary immune deficiencies.
  Journal
Immunol Allergy Clin North Am 28:387-412, x (2008)
Reference
PMID:17952897 (gene)
  Authors
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.
  Title
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  Journal
J Allergy Clin Immunol 120:776-94 (2007)

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