Plerixafor for the Treatment of WHIM Syndrome

N Engl J Med. 2019 Jan 10;380(2):163-170. doi: 10.1056/NEJMoa1808575.

Abstract

WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused by neutrophil retention in bone marrow. Patients with WHIM syndrome are often treated with granulocyte colony-stimulating factor (G-CSF), which can increase neutrophil counts but does not affect cytopenias other than neutropenia. In this investigator-initiated, open-label study, three severely affected patients with WHIM syndrome who could not receive G-CSF were treated with low-dose plerixafor, a CXCR4 antagonist, for 19 to 52 months. Myelofibrosis, panleukopenia, anemia, and thrombocytopenia were ameliorated, the wart burden and frequency of infection declined, human papillomavirus-associated oropharyngeal squamous-cell carcinoma stabilized, and quality of life improved markedly. Adverse events were mainly infections attributable to the underlying immunodeficiency. One patient died from complications of elective reconstructive surgery. (Funded by the National Institutes of Health.).

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Benzylamines
  • Bone Marrow / pathology*
  • Bone Marrow Examination
  • Cyclams
  • Fatal Outcome
  • Heterocyclic Compounds / therapeutic use*
  • Humans
  • Immunologic Deficiency Syndromes / drug therapy*
  • Immunologic Deficiency Syndromes / pathology
  • Male
  • Middle Aged
  • Neoplasms, Squamous Cell / drug therapy
  • Neoplasms, Squamous Cell / genetics
  • Phenotype
  • Primary Immunodeficiency Diseases
  • Primary Myelofibrosis / drug therapy
  • Primary Myelofibrosis / pathology
  • Receptors, CXCR4 / antagonists & inhibitors*
  • Receptors, CXCR4 / genetics
  • Warts / drug therapy*
  • Warts / pathology

Substances

  • Benzylamines
  • Cyclams
  • Heterocyclic Compounds
  • Receptors, CXCR4
  • plerixafor

Supplementary concepts

  • WHIM syndrome