title: 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: Pediatric Clinic and A. Nocivelli Institute of Molecular Medicine, Brescia, Italy. badolato@med.unibs.it
authors: Raffaele
authors: R
authors: Badolato
authors: Laura
authors: L
authors: Dotta
authors: Laura
authors: L
authors: Tassone
authors: Giovanni
authors: G
authors: Amendola
authors: Fulvio
authors: F
authors: Porta
authors: Franco
authors: F
authors: Locatelli
authors: Lucia D
authors: LD
authors: Notarangelo
authors: Yves
authors: Y
authors: Bertrand
authors: Francoise
authors: F
authors: Bachelerie
authors: Jean
authors: J
authors: Donadieu
mesh_terms: D000293:Adolescent; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D000081207:Primary Immunodeficiency Diseases; D019718:Receptors, CXCR4 / Q000235:genetics; D013771:Tetralogy of Fallot / Q000209:etiology* / Q000235:genetics; D014860:Warts / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D055815:Young Adult
chemical_list: C527276:CXCR4 protein, human; D019718:Receptors, CXCR4; D016179:Granulocyte Colony-Stimulating Factor