HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency

J Pediatr. 2004 Apr;144(4):519-23. doi: 10.1016/j.jpeds.2003.11.012.

Abstract

Objectives: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Consanguinity
  • Fatal Outcome
  • Herpesviridae Infections / complications*
  • Herpesvirus 8, Human
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Interferon gamma Receptor
  • Male
  • Mycobacterium Infections, Nontuberculous / complications
  • Mycobacterium fortuitum
  • Receptors, Interferon / deficiency*
  • Receptors, Interferon / genetics
  • Sarcoma, Kaposi / complications*
  • Sarcoma, Kaposi / pathology
  • Sarcoma, Kaposi / virology
  • Skin Neoplasms / complications*
  • Skin Neoplasms / pathology
  • Skin Neoplasms / virology

Substances

  • Receptors, Interferon