title: Late-onset adenosine deaminase deficiency presenting with Heck's disease.
abstract: Focal epithelial hyperplasia, also known as Heck's disease, is a rare but distinctive entity of viral etiology with characteristic clinical and histopathological features. It is a benign, asymptomatic disease of the oral mucosa caused by human papilloma viruses (HPV). Previous studies postulated an association between these lesions and immunodeficiency. Genetic deficiency of adenosine deaminase (ADA) results in varying degrees of immunodeficiency, including neonatal onset severe combined immunodeficiency (ADA-SCID), and milder, later onset immunodeficiency. We report a 12-year-old girl with the late onset-ADA deficiency presenting with Heck's disease. Our case report should draw attention to the possibility of immunodeficiency in patients with HPV-induced focal epithelial hyperplasia.
authors.affiliation: Department of Pediatric Immunology and Allergy, Meram Medical Faculty, Selcuk University, Beysehir yolu, 42080 Konya, Turkey. hasibeartac@yahoo.com
authors.forename: Hasibe
authors.initials: H
authors.lastname: Artac
authors.forename: Bahar
authors.initials: B
authors.lastname: Göktürk
authors.forename: Sefika Elmas
authors.initials: SE
authors.lastname: Bozdemir
authors.forename: Hatice
authors.initials: H
authors.lastname: Toy
authors.forename: Mirjam
authors.initials: M
authors.lastname: van der Burg
authors.forename: Ines
authors.initials: I
authors.lastname: Santisteban
authors.forename: Michael
authors.initials: M
authors.lastname: Hershfield
authors.forename: Ismail
authors.initials: I
authors.lastname: Reisli
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency*; D000367:Age Factors; D017668:Age of Onset; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D017573:Focal Epithelial Hyperplasia / Q000175:diagnosis* / Q000201:enzymology*; D006801:Humans
chemical_list: D000243:Adenosine Deaminase