ITK 缺陷导致的自身免疫性淋巴组织增生综合征。
ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
机构信息
Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.
出版信息
J Allergy Clin Immunol. 2021 Feb;147(2):743-745.e1. doi: 10.1016/j.jaci.2020.06.019. Epub 2020 Jul 4.
Abstract
A patient with a novel homozygous mutation in presented with autoimmune lymphoproliferative syndrome, and had impaired TCR-driven Fas ligand upregulation, providing a mechanism for the T cell lymphoproliferation.
摘要
一名患者携带 中新型纯合突变，表现出自体免疫性淋巴组织增生综合征，且 TCR 驱动的 Fas 配体上调受损，为 T 细胞淋巴增生提供了一种机制。
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