Myelokathexis is amongst the diseases treated with bone marrow transplantation and cord bloodstem 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]
^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. PMID9329467. S2CID9698904.
^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. PMID12692554. S2CID25010857.