纯核酸酸酶缺乏严重的综合免疫缺陷:一个病例报告和系统审查 (1975-2022)

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Syarifah Masyitah Habib Dzulkarnain1,2, Ilie Fadzilah Hashim1, Zarina Thasneem Zainudeen1

  • 1Primary Immunodeficiency Diseases Group, Department of Clinical Medicine, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam 13200 Kepala Batas, Pulau Pinang, Malaysia.

Journal of clinical immunology
|June 16, 2023
PubMed
概括

纯核酸酸化酶缺乏严重的综合免疫缺陷 (PNP SCID) 是一种罕见的遗传疾病. 本综述详细介绍了100例PNP SCID病例,突出了临床特征和成功的干细胞移植结果.

关键词:
案例报告案例报告临床表现 临床表现纯氨基核酸酸酶 (PNP) 是一种纯氨基核酸酸酶.严重的联合免疫缺陷 (SCID)系统性审查 系统性审查

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