title: WHIM syndrome and oral squamous cell carcinoma.
abstract: WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is an autosomal dominant disease related to a mutation in the chemokine receptor CXCR4 resulting in altered immune function. An increased susceptibility in these patients to human papillomavirus (HPV) manifests as cutaneous warts and, in women, cervical dysplasia and squamous carcinoma. HPV-related squamous carcinoma in other sites has not been documented. We report the occurrence of HPV-related squamous cell carcinoma of the oral cavity in 2 siblings with WHIM syndrome, whose pedigree has previously been described.
authors.affiliation: Department of Pathology, University of Chicago Medical Center, Chicago, Illinois 60637, USA. nicole.cipriani@uchospitals.edu
authors.forename: Nicole A
authors.initials: NA
authors.lastname: Cipriani
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Blair
authors.forename: Jerome B
authors.initials: JB
authors.lastname: Taxy
mesh_terms: D000328:Adult; D000361:Agammaglobulinemia / Q000150:complications* / Q000276:immunology; D001424:Bacterial Infections / Q000150:complications / Q000276:immunology; D001854:Bone Marrow Cells / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000209:etiology*; D019941:Cyclin-Dependent Kinase Inhibitor p16; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000209:etiology*; D009363:Neoplasm Proteins / Q000032:analysis; D035781:Siblings; D013577:Syndrome; D014860:Warts / Q000150:complications* / Q000276:immunology
chemical_list: C000614131:CDKN2A protein, human; D019941:Cyclin-Dependent Kinase Inhibitor p16; D009363:Neoplasm Proteins