Continuous Infusion of the CXCR4 Antagonist Plerixafor for WHIM Syndrome.

ABSTRACT: WHIM (Warts, Hypogammaglobulinemia, Infections and Myelokathexis) syndrome is an ultrarare inborn error of immunity caused by heterozygous, gain-of-function CXCR4 mutations that impede leukocyte egress from bone marrow, resulting in panleukopenia. The CXCR4 antagonist plerixafor (AMD3100, Mozobil) durably reverses panleukopenia and in most WHIM patients induces wart regression; however, its short half-life requires twice daily injection. To develop a simpler, cheaper and potentially more effective method of drug delivery, we conducted a Phase 1 study of WHIM patients given plerixafor 0.02-0.08 mg/kg/d by continuous subcutaneous infusion using an OmniPod insulin pump, and assessed compliance as well as effects on blood leukocyte counts, infections, chronic skin conditions and adverse

SUBMITTER: McDermott DH 

PROVIDER: S-EPMC12051493 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature