title: HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency.
abstract: OBJECTIVE
  Mediterranean classic Kaposi sarcoma (KS) of childhood is rare and unexplained. Our objective is to describe the case of a child with complete IFNgammaR1 deficiency and severe mycobacterial disease in whom Kaposi sarcoma (KS) developed.
  
  
  RESULTS
  Disseminated mycobacterial infection began at the age of 5 months, and at 11 years of age the child had disseminated KS lesions. The histologic appearance of these lesions was typical, with endothelial and spindle cell proliferation. Human herpesvirus-8 (HHV-8)-associated antigens were detected in situ by immunohistochemistry. HHV-8 DNA of K1 molecular subtype A was amplified from tissue lesions, and HHV-8-specific antibodies were detected in the patient's serum. The child died at 12 years of age of disseminated mycobacterial disease and KS.
  
  
  CONCLUSIONS
  This is the first identification of a well-defined primary immunodeficiency in a child with KS. Inherited disorders of IFN-gamma-mediated immunity and severe mycobacterial disease may predispose HHV-8-infected children to KS.
authors.affiliation: Department of Pediatrics, Infectious Diseases and Clinical Immunology Division, Cerrahpasa Medical School, University of Istanbul, Istanbul, Turkey. canciy@yahoo.com
authors.forename: Yildiz
authors.initials: Y
authors.lastname: Camcioglu
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Vincent
authors.initials: V
authors.lastname: Lacoste
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Dupuis
authors.forename: Necla
authors.initials: N
authors.lastname: Akçakaya
authors.forename: Haluk
authors.initials: H
authors.lastname: Cokura
authors.forename: Gültekin
authors.initials: G
authors.lastname: Kaner
authors.forename: Cuyan
authors.initials: C
authors.lastname: Demirkesen
authors.forename: Sabine
authors.initials: S
authors.lastname: Plancoulaine
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Emile
authors.forename: Antoine
authors.initials: A
authors.lastname: Gessain
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D002648:Child; D003241:Consanguinity; D017809:Fatal Outcome; D006566:Herpesviridae Infections / Q000150:complications*; D019288:Herpesvirus 8, Human; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D008297:Male; D009165:Mycobacterium Infections, Nontuberculous / Q000150:complications; D019907:Mycobacterium fortuitum; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics; D012514:Sarcoma, Kaposi / Q000150:complications* / Q000473:pathology / Q000821:virology; D012878:Skin Neoplasms / Q000150:complications* / Q000473:pathology / Q000821:virology; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor