In this context, we describe an adolescent diagnosed with disseminated cryptococcosis involving skin, lymph nodes, spleen and hepato-biliary involvement with reduced IL-12β1 receptor expression.Ī sixteen-years-old laborer, with non-contributory past history, presented with fever, jaundice and unintentional weight loss of eight kilograms over two months. Mendelian susceptibility to mycobacterial disease (MSMD) is a rare innate immune defect characterized by predisposition to infections by less virulent mycobacteria, non-typhoidal salmonellosis and more rarely with other intra-macrophagic fungi or parasites. However, cryptococcal infection in an apparently immunocompetent individual, requires exclusion of underlying primary immunodeficiency. Following initial management with conventional amphotericin and flucytosine, along with antibiotics for cholangitis and later suppressive prophylaxis with fluconazole our patient showed good response with resolution of jaundice, normalization of liver function tests by second month of follow-up and had significant regression of lymph nodes as well as skin lesions by six months.ĭisseminated cryptococcosis is most commonly associated with HIV infection. In this context, we describe an adolescent diagnosed with disseminated cryptococcosis involving skin, lymph nodes, spleen and hepato-biliary involvement with reduced IL-12β1 receptor expression suggesting underlying MSMD. Cryptococcosis particularly if disseminated or extrapulmonary, in an otherwise immune-competent individual, especially if young, requires thorough evaluation for underlying primary immunodeficiency including Mendelian susceptibility to mycobacterial disease (MSMD).
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