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J Pediatr ; 144(4): 519-23, 2004 Apr.
Article in English | MEDLINE | ID: mdl-15069403

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.


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