白细胞介素-2诱导型T细胞激酶（ITK）缺乏症——临床和分子学方面
Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects.
作者信息
Ghosh Sujal, Bienemann Kirsten, Boztug Kaan, Borkhardt Arndt
机构信息
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Moorenstraße 5, 40225, Duesseldorf, Germany.
出版信息
J Clin Immunol. 2014 Nov;34(8):892-9. doi: 10.1007/s10875-014-0110-8. Epub 2014 Oct 24.
In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia. Several newly discovered primary immunodeficiencies (STK4, CD27, MAGT1, CORO1A) have been described in recent years; our group and collaborators were able to reveal the pathogenicity of mutations in the Interleukin-2-inducible T-cell Kinase (ITK) in a cohort of nine patients with most patients presenting with massive EBV B-cell lymphoproliferation. This review summarizes the clinical and immunological findings in these patients. Moreover, we describe the functional consequences of the mutations and draw comparisons with the extensively investigated function of ITK in vitro and in the murine model.
在存在潜在免疫缺陷的患者中，爱泼斯坦-巴尔病毒（EBV）可能导致严重的免疫失调，表现为致命性单核细胞增多症、淋巴瘤、淋巴增殖性疾病（LPD）、淋巴瘤样肉芽肿病、噬血细胞性淋巴组织细胞增生症（HLH）和丙种球蛋白异常血症。近年来已描述了几种新发现的原发性免疫缺陷（STK4、CD27、MAGT1、CORO1A）；我们团队及合作者在一组9例患者中揭示了白细胞介素-2诱导型T细胞激酶（ITK）突变的致病性，大多数患者表现为大量EBV B细胞淋巴增殖。本综述总结了这些患者的临床和免疫学发现。此外，我们描述了这些突变的功能后果，并与在体外和小鼠模型中对ITK进行广泛研究的功能进行比较。
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