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IntroductionHyperuricemia, pulmonary hypertension, renal failure, alkalosis (HUPRA) syndrome is a mitochondrial disease caused by mutations in SARS2 (seryl-tRNA synthetase 2), which plays a role in protein synthesis. Lim...

IntroductionSporotrichosis is an uncommon but emerging opportunistic infection in immunocompromised patients. Primary pulmonary sporotrichosis can disseminate and result in significant morbidity and mortality, despite tr...

IntroductionActivated Phosphoinositide 3-Kinase Delta Syndrome (APDS), a rare inborn error of immunity, is associated with immunodeficiency and immune dysregulation. Clinical management includes symptomatic treatment wit...

Genetic alteration of the genes of cytoskeletal regulatory proteins (e.g., actin-related protein complex-1 [ARPC1]) results in severe immune and hematological defects. ARPC1B deficiency (ARPC1BD) is an immune-actinopathy...

BackgroundMore than one-fourth of the world’s burden of ARPC1B deficiency (ARPC1BD), a rare immune-actinopathy, is reported from Nepal, a resource-constrained Himalayan country with a single trained immunologist. The d...