联合免疫缺陷患者中MALT1功能丧失:一种新的致病变体和免疫学见解

Zhirui Tian1,2, Ran Chen1,2, Yanjun Jia1,2,3

  • 1National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.

PubMed
概括

生殖系MALT1缺陷通过破坏NF-kB信号传递导致严重的综合免疫缺陷 (CID). 一种新型的MALT1变异导致免疫细胞功能受损和炎症表型,突显出血造干细胞移植 (HSCT) 的必要性.

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