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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Detalles Bibliográficos
Autores principales: Ewertowska, Marlena, Grześk, Elżbieta, Urbańczyk, Anna, Dąbrowska, Anna, Bąbol-Pokora, Katarzyna, Łęcka, Monika, Kołtan, Sylwia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7115069/
https://www.ncbi.nlm.nih.gov/pubmed/32265996
http://dx.doi.org/10.1186/s13223-020-00420-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7115069/
https://www.ncbi.nlm.nih.gov/pubmed/32265996
http://dx.doi.org/10.1186/s13223-020-00420-6

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