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

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 of caus...

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Detalhes bibliográficos
Publicado no:Allergy Asthma Clin Immunol
Main Authors: Ewertowska, Marlena, Grześk, Elżbieta, Urbańczyk, Anna, Dąbrowska, Anna, Bąbol-Pokora, Katarzyna, Łęcka, Monika, Kołtan, Sylwia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7115069/
https://ncbi.nlm.nih.gov/pubmed/32265996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13223-020-00420-6
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