ArticleFrontiers in immunology2026
Case report: Persistent hypogammaglobulinemia following hematopoietic stem cell transplantation from a sibling donor with heterozygous RAG1 mutation.
Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Hematopoietic stem cell transplantation (HSCT) is a curative treatment for pediatric hematologic and immunologic disorders, with successful immune reconstitution being critical for long-term survival. We report the unique case of persistent hypogammaglobulinemia following fully matched HSCT from a phenotypically normal sibling donor carrying a heterozygous Methods: A 13-year-old girl with EBV-associated NK/T-cell lymphoproliferative disorder underwent fully matched sibling HSCT from her mutation-carrying donor. Whole-exome sequencing confirmed the Results: Despite successful engraftment and quantitative T- and B-cell recovery, the patient developed persistent hypogammaglobulinemia. Serum IgG levels declined to below 4g/L at 4 months post-HSCT and remained persistently below 2g/L from 11 months onwards (with only one measurement of 2.57g/L during this period). IgA levels remained consistently below 0.2g/L, becoming undetectable by 11 months and remaining so. IgM levels dropped below the detection threshold at 2 months and demonstrated only partial recovery by 18 months (peak: 0.29g/L). The patient experienced recurrent respiratory infections, necessitating long-term immunoglobulin replacement therapy. Conclusions: This case demonstrates that heterozygous variants in genes critical for hematopoietic reconstitution (such as
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