Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis
{{output}}
Introduction: ITPR3 encodes a subunit of the inositol 1,4,5-trisphosphate receptor (IP3R), which forms a Ca2+ channel on the endoplasmic reticulum (ER) membrane responsible for ER Ca2+ release. Recently, both autosomal dominant a... ...
