Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis
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.
Authors
- Hao Xiong (ORCID: https://orcid.org/0000-0002-2055-425X)
- Lang Yu
- Peina Jin
- Yunfei An (ORCID: https://orcid.org/0000-0001-9664-1256)
- Wenhui Li (ORCID: https://orcid.org/0000-0003-1305-7404)
- Yulin Li (ORCID: https://orcid.org/0000-0001-7909-0763)
- Xiaodong Zhao (ORCID: https://orcid.org/0000-0002-6303-7260)
- Ming Sun (ORCID: https://orcid.org/0000-0002-4343-2394)
- Liwen Zhang (ORCID: https://orcid.org/0009-0008-8257-5639)
Institutions
- Chongqing Emergency Medical Center (CN)
- Wuhan Children's Hospital (CN)
- First Affiliated Hospital of Zhengzhou University (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-09-12
- DOI
- https://doi.org/10.3389/fimmu.2025.1653662
- Citations
- 1
- Primary Topic
- Autoimmune and Inflammatory Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.77