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Medical condition From Wikipedia, the free encyclopedia
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 | |
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Specialty | Hematology |
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]
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