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. Author manuscript; available in PMC: 2018 Sep 25.
Published in final edited form as: Expert Opin Orphan Drugs. 2017 Sep 25;5(10):813–825. doi: 10.1080/21678707.2017.1375403

Figure 4.

Figure 4

Chromothriptic cure of WHIM syndrome in patient WHIM-09. This patient was the first ever reported with WHIM syndrome. As an adult, neutropenia, warts and susceptibility to recurrent infection spontaneously resolved. Her HSCs and the entire myeloid lineage but not the lymphoid lineage was found to be a clonal derivative of a cell that had undergone chromothripsis on chromosome 2. In particular, one copy of chromosome 2 was found to contain 17 gaps, deleting 164 genes including the WHIM allele of CXCR4. Mouse HSCs lacking one copy of wild type CXCR4 were found to have an engraftment advantage, identifying a potential cure mechanism for the patient.