ArticleFrontiers in immunology2025
Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis.
Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Autosomal dominant gain-of-function mutations in LCP1 cause a syndromic neutropenia and immunodeficiency.Genes & diseases · 2027Article
- A critically ill adolescent with EBV-associated hemophagocytic lymphohistiocytosis-induced hyperinflammatory shock: a case report and literature review.Frontiers in immunology · 2025Review
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9 authors.
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Abstract
Introduction: ITPR3 encodes a subunit of the inositol 1,4,5-trisphosphate receptor (IP3R), which forms a Ca Methods: We retrospectively analyzed the clinical characteristics of two patients with ITPR3 deficiency accompanied by hemophagocytic lymphohistiocytosis (HLH) at our center. Through a literature review, we further compared their clinical manifestations with those of combined immunodeficiency (CID) patients who presented with HLH. Results and Discussions: Our two CID patients with multisystem disorders harboring germline heterozygous ITPR3 mutations (c.7570C>G, p.Arg2524Gly and c.7570C>T, p.Arg2524Cys). Both patients developed severe Epstein-Barr virus (EBV)-associated HLH, and one patient succumbed to disease-related complications. Our study demonstrates that ITPR3-associated CID confers a susceptibility to EBV-driven pathologies, particularly HLH, which warrants heightened clinical vigilance. Therefore, early hematopoietic stem cell transplantation (HSCT) should be considered to improve survival outcomes in these patients.
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