KEGG DISEASE: WHIM syndrome

KEGG

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 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
Pathway-based classification of diseases [BR:br08402]
Immune system
  nt06533  Chemokine signaling
   H00097  WHIM syndrome

Pathway

Cytokine-cytokine receptor interaction

Network

nt06533 Chemokine signaling

Gene

(WHIMS1) CXCR4 [HSA:7852] [KO:K04189]
(WHIMS2) CXCR2 [HSA:3579] [KO:K05050]

Drug

Mavorixafor [DR:D11510]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

LinkDB

» Japanese version

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