Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome

J Pediatr. 2012 Oct;161(4):763-5. doi: 10.1016/j.jpeds.2012.05.058. Epub 2012 Jun 27.

Abstract

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency disorder. We report three patients with WHIM syndrome who are affected by Tetralogy of Fallot (TOF). This observation suggests a possible increased risk of TOF in WHIM syndrome and that birth presentation of TOF and neutropenia should lead to suspect WHIM syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Female
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • Humans
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / drug therapy
  • Immunologic Deficiency Syndromes / genetics
  • Male
  • Mutation
  • Pedigree
  • Primary Immunodeficiency Diseases
  • Receptors, CXCR4 / genetics
  • Tetralogy of Fallot / etiology*
  • Tetralogy of Fallot / genetics
  • Warts / complications*
  • Warts / diagnosis
  • Warts / drug therapy
  • Warts / genetics
  • Young Adult

Substances

  • CXCR4 protein, human
  • Receptors, CXCR4
  • Granulocyte Colony-Stimulating Factor

Supplementary concepts

  • WHIM syndrome