作者
M Elgizouli, DM Lowe, C Speckmann, D Schubert, J Hülsdünker, Z Eskandarian, A Dudek, A Schmitt-Graeff, J Wanders, SF Jørgensen, B Fevang, U Salzer, A Nieters, S Burns, B Grimbacher
发表日期
2016/2
期刊
Clinical & Experimental Immunology
卷号
183
期号
2
页码范围
221-229
出版商
Oxford University Press
简介
The gene PIK3CD codes for the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), and is expressed solely in leucocytes. Activating mutations of PIK3CD have been described to cause an autosomal dominant immunodeficiency that shares clinical features with common variable immunodeficiency (CVID). We screened a cohort of 669 molecularly undefined primary immunodeficiency patients for five reported mutations (four gain-of-function mutations in PIK3CD and a loss of function mutation in PIK3R1) using pyrosequencing. PIK3CD mutations were identified in three siblings diagnosed with CVID and two sporadic cases with a combined immunodeficiency (CID). The PIK3R1 mutation was not identified in the cohort. Our patients with activated PI3Kδ syndrome (APDS) showed a range of clinical and immunological findings, even within a single family, but shared a reduction in naive T cells. PIK3CD gain …
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M Elgizouli, DM Lowe, C Speckmann, D Schubert… - Clinical & Experimental Immunology, 2016