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Updated: Jun 11, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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第一个巴西病例报告,涉及具有相同ISG15突变的非相关患者

Sarah Maria da Silva Napoleao1, Ranieri Coelho Salgado2, Janaira Fernandes Severo Ferreira3

  • 1Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, Lineu Prestes Avenue, São Paulo, SP, 1730, Brazil. smnapoleao@gmail.com.

Journal of clinical immunology
|October 4, 2024
PubMed
概括

罕见的遗传性疾病ISG15缺乏症在两个不相关的巴西患者中被发现,这些患者具有共同的遗传突变. 这一发现突出了不同的传染病和神经症状,推动了我们对遗传易感性的理解.

关键词:
在IL-12/IFN-γ轴上在ISG15中,缺陷是ISG15.这是MSMD的MSMD.免疫的先天错误 免疫的先天错误菌根菌感染 菌根菌感染原发性免疫缺陷是一种免疫缺陷.

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