ArticleImmunologic research2016
Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.
Article in Immunologic research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 19 citations in OpenAlex.
- PreclinicalGenes & diseases · 2025Article
- Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.Immunologic research · 2024Article
- Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Clinical and experimental immunology · 2024Article
- Case report: Identification of a Chinese patient withFrontiers in immunology · 2024Article
- Autoimmunity in Primary Immunodeficiencies (PID).Clinical reviews in allergy & immunology · 2023Review
- Two patients with ZAP-70 deficiency in China present with a different genetic, immunological, and clinical phenotype.BMC pediatrics · 2023Article
- A variant of RAG1 gene identified in severe combined immunodeficiency: a case report.BMC pediatrics · 2023Article
- Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.Clinical and experimental immunology · 2019Article
- A NovelFrontiers in genetics · 2019Article
- Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.Medicine · 2018Observational
- [Clinical features and gene mutations of primary immunodeficiency disease: an analysis of 7 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- In vitro T lymphocyte proliferation by carboxyfluorescein diacetate succinimidyl ester method is helpful in diagnosing and managing primary immunodeficiencies.Journal of clinical laboratory analysis · 2018Article
- [Red, scaly baby: a pediatric dermatological emergency : Clinical and differential diagnoses of neonatal erythroderma].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2017Review
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13 authors at 2 institutions in 1 country.
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Abstract
Mutations in Recombination Activating Genes (RAG1 and RAG2) are common genetic causes of severe combined immunodeficiency (SCID) and Omenn syndrome (OS). The clinical, immunologic, and genetic characteristics of RAG mutations in Chinese patients with SCID or OS have not been studied in detail. In this research, 22 RAG mutations were identified in 15 Chinese patients, including 10 novel mutations in RAG1 (R108X, M630T, E510X, S666P, E669K, C730Y, A857V, K847E, L922PfsX7, and L1025FfsX39) and 4 in RAG2 (R73C, I427GfsX12, P432L, and 311insL). L1025FfsX39 is a potential RAG1 hot-spot mutation in the Chinese population. The distribution of RAG1 mutations rather than mutation type seemed to differ between SCID and OS patients. The thymic output of T lymphocytes, TCR rearrangement, and T cell proliferation were severely impaired in RAG mutant patients. These findings will contribute to the early diagnosis and treatment of SCID and OS to a certain extent.
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