Effects Of Mavorixafor On Functional Impairments Due To A Novel Missense CXCR4 Mutation In A Patient With WHIM-Like Syndrome

Abstract

WHIM (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) syndrome is a rare primary immunodeficiency mostly caused by gain-of-function mutations in the C-terminus of the C-X-C chemokine receptor 4 (CXCR4). We described a case of clinical WHIM-like syndrome in a patient with a novel heterozygous mutation in the CXCR4 transmembrane region (CXCR4D84H). Here, we further evaluate the patient’s peripheral blood leukocytes and transfected cells expressing CXCR4D84H for their in vitro response to CXCR4 antagonist mavorixafor, currently in phase 3 clinical development.