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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...
Autores principales: | Ewertowska, Marlena, Grześk, Elżbieta, Urbańczyk, Anna, Dąbrowska, Anna, Bąbol-Pokora, Katarzyna, Łęcka, Monika, Kołtan, Sylwia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
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 |
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