Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Department of Pediatrics and Adolescent Medicine, Ulm University, Ulm, Germany.
Clin Immunol. 2019 Apr;201:30-34. doi: 10.1016/j.clim.2018.11.006. Epub 2019 Feb 15.
Severe combined immunodeficiencies (SCID) comprise a group of genetic diseases characterized by abrogated development of T lymphocytes. In some case reports of atypical SCID patients elevated proportions of γδ T lymphocytes have been reported. However, it is unknown whether these γδ T cells modulate or reflect the patient's clinical phenotype. We investigated the frequency of elevated γδ T cell proportions and associations with clinical disease manifestations in a cohort of 76 atypical SCID patients. Increased proportions of γδ T lymphocytes were present in approximately 60% of these patients. Furthermore, we identified positive correlations between elevated proportions of γδ T cells and the occurrence of CMV infections and autoimmune cytopenias. We discuss that CMV infections might trigger an expansion of γδ T lymphocytes, which could drive the development of autoimmune cytopenias. We advocate that atypical SCID patients should be screened for elevated proportions of γδ T lymphocytes, CMV infection and autoimmune cytopenias.
严重联合免疫缺陷症（SCID）是一组以 T 淋巴细胞发育不全为特征的遗传疾病。在一些非典型 SCID 患者的病例报告中，报道了γδ T 淋巴细胞比例升高。然而，目前尚不清楚这些γδ T 细胞是否调节或反映患者的临床表型。我们研究了一组 76 例非典型 SCID 患者中γδ T 细胞比例升高的频率及其与临床疾病表现的相关性。大约 60%的患者存在γδ T 淋巴细胞比例升高。此外，我们还发现 γδ T 细胞比例升高与 CMV 感染和自身免疫性血细胞减少症的发生之间存在正相关。我们认为 CMV 感染可能触发 γδ T 淋巴细胞的扩增，从而导致自身免疫性血细胞减少症的发生。我们主张对非典型 SCID 患者进行γδ T 细胞比例升高、CMV 感染和自身免疫性血细胞减少症的筛查。
