一个诊断和治疗挑战的临床难题:一个病例中的两个疾病的故事

Pallavi Gaikwad1, Umair Ahmed Bargir1, Shweta Shinde1

  • 1Indian Council of Medical Research (ICMR) - National Institute of Immunohaematology (NIIH), KEM Hospital, 13th floor New Multistorey Building, Parel Mumbai, Mumbai, India.

PubMed
概括

这项研究突出了一个罕见的年轻女性病例,其中两个DNA修复基因DCLRE1C和FANCA的突变导致了联合免疫缺陷. 这种双重遗传缺陷凸显了免疫的先天性错误的复杂性.

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