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

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.

• Authors: Raffaele Badolato, Laura Dotta, Laura Tassone, Giovanni Amendola, Fulvio Porta, Franco Locatelli, Lucia D Notarangelo, Yves Bertrand, Francoise Bachelerie, Jean Donadieu
• Journal: The Journal of pediatrics (J Pediatr) Vol. 161 Issue 4 Pg. 763-5 (Oct 2012) ISSN: 1097-6833 [Electronic] United States
• PMID: 22748845 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Mosby, Inc. All rights reserved.

Chemical References

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

Topics

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