Myelokathexis
Template:Infobox medical condition (new) 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. Script error: No such module "Unsubst".
Myelokathexis is amongst the diseases treated with bone marrow transplantation and cord blood stem cells.Script error: No such module "Unsubst". 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
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