Myelokathexis
| Myelokathexis | |
|---|---|
| Specialty | Hematology |
Myelokathexis is a congenital disorder of the white blood cells that causes severe, chronic leukopenia (a reduction of circulating white blood cells) and neutropenia (a reduction of neutrophil granulocytes).[1] The disorder is believed to be inherited in an autosomal dominant manner.[1][2] Myelokathexis refers to retention (kathexis) of neutrophils in the bone marrow (myelo). The disorder shows prominent neutrophil morphologic abnormalities. [citation needed]
Myelokathexis is amongst the diseases treated with bone marrow transplantation and cord blood stem cells.[citation needed] WHIM syndrome is a very rare variant of severe congenital neutropenia that presents with warts, hypogammaglobunemia, infections, and myelokathexis. A gain-of-function mutation resulting in a truncated form of CXCR4 is believed to be its cause. The truncated form of the receptor has a 2-fold increase in G-protein coupled intracellular signalling, and this mutation of the receptor can be identified by DNA sequencing. [3]
See also
[edit]References
[edit]- ^ a b Aprikyan AA, Liles WC, Park JR, Jonas M, Chi EY, Dale DC (Jan 2000). "Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors" (Free full text). Blood. 95 (1): 320–327. doi:10.1182/blood.V95.1.320. PMID 10607719. S2CID 9635789.
- ^ Hord, JD; Whitlock, JA; Gay, JC; Lukens, JN (Sep–Oct 1997). "Clinical features of myelokathexis and treatment with hematopoietic cytokines: a case report of two patients and review of the literature". Journal of Pediatric Hematology/Oncology. 19 (5): 443–448. doi:10.1097/00043426-199709000-00007. PMID 9329467. S2CID 9698904.
- ^ Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA (May 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. S2CID 25010857.
External links
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