一种新型的 p110δ 单等位基因突变导致非典型活化的磷酸肌醇 3-激酶 δ 综合征（APDS-1）。
A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).
机构信息
Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
出版信息
Clin Immunol. 2019 Mar;200:31-34. doi: 10.1016/j.clim.2019.01.003. Epub 2019 Jan 9.
This study reports on a novel activating p110δ mutation causing adult-onset hypogammaglobulinemia with lymphopenia without the classical presentation of atypical Activated phosphoinositide 3-kinase δ syndrome (ADPS-1), underlining thus the heterogeneous clinical and immunological presentation of p110δ mutated individuals and offers additional data on the role of p110δ in early and late B cell development in humans.
本研究报告了一种新的激活 p110δ 突变，导致成人发病的低丙种球蛋白血症伴淋巴细胞减少，但无典型的非典型活化磷酸肌醇 3-激酶 δ 综合征（ADPS-1）表现，这强调了 p110δ 突变个体的临床表现和免疫学表现存在异质性，并提供了关于 p110δ 在人类早期和晚期 B 细胞发育中的作用的额外数据。
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