Del Giudice E, Gaetaniello L, Matrecano E, Cosentini E, Ursini M V, Racioppi L, Arrigo G, Pignata C
Department of Pediatrics, Federico II University, Naples, Italy.
Neuropediatrics. 2000 Oct;31(5):265-8. doi: 10.1055/s-2000-9234.
In this study we report on a patient affected by a brain migration disorder and a T-cell activation deficiency presumably inherited as an autosomal recessive trait. The immunological evaluation revealed that the mitogen stimulation failed to induce a proper up-regulation of membrane expression of T-cell activation markers, and cell proliferation. This functional impairment was associated with abnormalities of the signal transduction process that follows T-cell receptor stimulation. A constitutive hyperphosphorylation of the Fyn tyrosine kinase was documented. This is the first report on a T-cell signaling abnormality associated with a developmental brain disorder. Whether the alteration of Fyn, which plays a role in both neurological and immunological systems, is responsible for either disorder remains to be elucidated.
在本研究中，我们报告了一名患有脑移行障碍和T细胞激活缺陷的患者，该缺陷可能作为常染色体隐性性状遗传。免疫学评估显示，丝裂原刺激未能诱导T细胞激活标志物膜表达和细胞增殖的适当上调。这种功能损害与T细胞受体刺激后信号转导过程的异常有关。记录到Fyn酪氨酸激酶的组成性过度磷酸化。这是关于与发育性脑疾病相关的T细胞信号异常的首次报告。在神经和免疫系统中均起作用的Fyn改变是否导致这两种疾病仍有待阐明。
