Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature
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- 作者：Peter Olbrich ; Myriam Lorenz ; Paola Cura Daball ; José ; Manuel Lucena ; Anne Rensing-Ehl ; Berta Sanchez ; Marita Fü ; hrer ; Marisol Camacho-Lovillo ; Marta Melon ; Klaus Schwarz ; Olaf Neth and Carsten Speckmann
- 刊名：Pediatric Allergy and Immunology
- 出版年：2016
- 出版时间：September 2016
- 年：2016
- 卷：27
- 期：6
- 页码：640-644
- 全文大小：532K
- ISSN：1399-3038
文摘
Autosomal dominant gain-of-function mutations in PIK3R1 encoding for the regulatory subunit (p85α, p55α, and p50α) of Class IA phosphoinositide 3-kinase (PI3K) result in the activated PI3Kδ syndrome (APDS) type 2 characterized by childhood-onset combined immunodeficiency, lymphoproliferation, and immune dysregulation. To improve clinical awareness and understanding of these rare diseases, we reviewed all hitherto published cases with APDS type 1 and type 2 for their clinical and immunologic symptoms and added novel clinical, immunologic, and genetic findings of two patients with APDS type 2.