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Abstract

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). 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. Following initial managemen…