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10-Jun-2005
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Arch Hellen Med, 22(3), May-June 2005, 302-306 SHORT COMMUNICATION Interferon-γ deficiency (IFNγR) in two children of a Greek family M. KANARIOU,1 A. MITSIKA,1 M. LIATSIS,1 N. MANOLAKI2 |
The cases of two male siblings with interferon-γ (IFNγ) receptor deficiency are described. In the early '90s, the boys died early with the diagnosis of "possible macrophage deficiency", as the identification of the disorder was not feasible at that time. Both children developed normally up to the ages of 2.5 years and 15 months respectively, when they presented with fever, weight loss, lymphadenopathy, increased levels of inflammation markers and raised immunoglobulins. The diagnosis of chronic multifocal osteomyelitis due to Mycobacterium fortuitum was confirmed in the elder child, who responded, initially, to antimycobacterium chemotherapy and lived with relapses and remission for the next 3 years. The younger child developed Salmonella enteritidis septicemia and despite antibiotic treatment died 3 months later.
Key words: Interferon-γ receptor (IFNγR) deficiency, Mycobacterium fortuitum, Salmonella enteritidis.
