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.
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
References
- ^ 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.
- ^ 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.
- ^ 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.
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