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. 2018 Dec 20;20(1):3. doi: 10.3390/ijms20010003

Figure 2.

Figure 2

Therapeutic strategies to treat and cure WHIM syndrome. Selective inhibitors or molecules to specifically target either CXCL12 [102,103] or CXCR4 [38,43,44,101,104] have been developed and are at various phases of testing and clinical trials to mobilize immune cells from bone marrow of WHIM patients. Among the four patients to be cured of WHIM syndrome, three of them underwent successful hematopoietic stem cell transplantation [35,72,75]. The fourth patient, WHIM-09, was fortuitously cured by chromothripsis which occurred in a single HSC, which resulted in repopulation of myeloid but not lymphoid cells, cessation of recurrent bacterial infections and clearance of HPV-induced warts [15]. This suggested the possibility of inactivating the CXCR4 WHIM allele by gene editing and transplantating autologous edited CXCR4-hemizygous HSCs as a possible cure for WHIM syndrome. Transplantation of Cxcr4+/0 HSCs is successful in the reconstitution of blood cells in WHIM mice [34].