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<p>Recombination-activating gene (RAG) 1–2 deficiencies have a phenotype spectrum from severe combined to combined immunodeficiency (CID). We presented a comprehensive immunologic/genetic/radiologic/pathological, and virologic evaluation results of a patient with granuloma and reviewed the medical literature in 2022–2025 period for rubella virus (RuV)-associated granulomas in inborn errors of immunity (IEI). We evaluated a 17-year-old male patient with a necrotic, ulcerated, and exudative lesion extending over the right foot and leg at the edge of amputation. He had a history of recurrent pneumonia and bronchiectasis. Further evaluation revealed systemic granulomas (skin, spleen) in addition to the extremity lesions and low T- and B-, and naive CD4 + T cell numbers. In addition to a defined heterozygous RAG1 mutation(c.1421 G &gt; A, R474H) detected with NGS PID-panel analysis, Sanger sequencing analysis confirmed patient`s CID diagnosis by revealing another heterozygous mutation(c.1181 G &gt; A, R394Q). Histopathology demonstrated necrotizing granulomas with vasculitis and RT-PCR study from the splenic granulomas revealed RuV. The ulceration and exudative extremity lesions regressed with a scar within two months after the initiation of the anti–TNF therapy. In addition to CID therapy, hematopoietic stem cell transplantation was planned from his HLA-matched sibling donor. RuV-associated granuloma usually develop in the first 12 years and accompany gene defects related to Griscelli disease and familial hemophagocytic lymphohistiocytosis (HLH) in the medical literature. Early, comprehensive diagnostic workup for granuloma could further reveal the RuV’s role in granulomatous inflammation in IEI, leading to targeted therapy to improve outcomes. Thorough genetic investigation in the presence of granuloma is crucial.</p>

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Rubella-associated granuloma in a patient with a compound heterozygous RAG1 defect and review of the literature

  • 期刊论文

  • 发表日期：

    2025年10月27日

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  • Aysegul Akarsu,
  • Gamze Sonmez,
  • Ana-Iris Schiefer,
  • H. Nursun Ozcan,
  • Meral Üner,
  • Saliha Esenboga,
  • Ali Duzova,
  • Felicitas Oberndorfer,
  • Seza Ozen,
  • Mehmet Ayvaz,
  • Uğur Özçelik,
  • Deniz Cagdas

摘要

Recombination-activating gene (RAG) 1–2 deficiencies have a phenotype spectrum from severe combined to combined immunodeficiency (CID). We presented a comprehensive immunologic/genetic/radiologic/pathological, and virologic evaluation results of a patient with granuloma and reviewed the medical literature in 2022–2025 period for rubella virus (RuV)-associated granulomas in inborn errors of immunity (IEI). We evaluated a 17-year-old male patient with a necrotic, ulcerated, and exudative lesion extending over the right foot and leg at the edge of amputation. He had a history of recurrent pneumonia and bronchiectasis. Further evaluation revealed systemic granulomas (skin, spleen) in addition to the extremity lesions and low T- and B-, and naive CD4 + T cell numbers. In addition to a defined heterozygous RAG1 mutation(c.1421 G > A, R474H) detected with NGS PID-panel analysis, Sanger sequencing analysis confirmed patient`s CID diagnosis by revealing another heterozygous mutation(c.1181 G > A, R394Q). Histopathology demonstrated necrotizing granulomas with vasculitis and RT-PCR study from the splenic granulomas revealed RuV. The ulceration and exudative extremity lesions regressed with a scar within two months after the initiation of the anti–TNF therapy. In addition to CID therapy, hematopoietic stem cell transplantation was planned from his HLA-matched sibling donor. RuV-associated granuloma usually develop in the first 12 years and accompany gene defects related to Griscelli disease and familial hemophagocytic lymphohistiocytosis (HLH) in the medical literature. Early, comprehensive diagnostic workup for granuloma could further reveal the RuV’s role in granulomatous inflammation in IEI, leading to targeted therapy to improve outcomes. Thorough genetic investigation in the presence of granuloma is crucial.