Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys

Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys

Abstract Background Activated PI3K delta syndrome (APDS) belongs to the heterogeneous group of primary immunodeficiency disorders (PIDs). Progress in next-generation sequencing (NGS) enabled identification of gain-of-function mutations in phosphoinositide 3-kinase (PI3K) genes. Depending on the type...

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Bibliographic Details
Main Authors: Marlena Ewertowska, Elżbieta Grześk, Anna Urbańczyk, Anna Dąbrowska, Katarzyna Bąbol-Pokora, Monika Łęcka, Sylwia Kołtan
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Allergy, Asthma & Clinical Immunology
Subjects:
PI3Kδ
Primary immunodeficiency
APDS
Hyper IgM
Growth hormone
Genetic testing
Online Access:http://link.springer.com/article/10.1186/s13223-020-00420-6

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