WHIM syndrome
WHIM Syndrome (or Wart, Hypogammaglobulinemia, Infection, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia.
Diagnosis
Diagnosis
Patients exhibit increased susceptibility to bacterial and viral infections, especially from common serotype human papilloma virus, resulting in warts on the hands and feet starting in childhood. Myelokathexis refers to retention (kathexis) of neutrophils in the bone marrow (myelo). In addition, lymphocytes and antibody levels (gammaglobulins) are often deficient.
Pathophysiology
Pathophysiology
WHIM syndrome results from autosomal dominant mutations in the gene for the chemokine receptor, CXCR4,[1][2] resulting in a carboxy-terminus truncation of the receptor of between ten and 19 residues. The gene mutant is located on 2q21. WHIM syndrome is one of only a few diseases directly and primarily caused by an aberrant chemokine, making its molecular biology important in understanding the role of cell signaling and trafficking.
References
References
- ↑ Hernandez PA, Gorlin RJ, Lukens JN; et al. (2003). “Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease”. Nat. Genet. 34 (1): 70–4. doi:10.1038/ng1149. PMID 12692554. Unknown parameter
|month=ignored (help) - ↑ Kawai T, Choi U, Cardwell L; et al. (2007). “WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4”. Blood. 109 (1): 78–84. doi:10.1182/blood-2006-05-025296. PMC 1785067. PMID 16946301. Unknown parameter
|month=ignored (help)
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