Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model

Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model

The phosphoinositide-3-kinase (PI3K) family plays a major role in cell signaling and is predominant in leukocytes. Gain-of-function (GOF) mutations in the PIK3CD gene lead to the development of activated PI3Kδ syndrome (APDS), a rare primary immunodeficiency disorder. A subset of APDS patients also...

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Autores principales: Ines Serra, Olivia R. Manusama, Fabian M.P. Kaiser, Izi Izumi Floriano, Lucas Wahl, Christian van der Zalm, Hanna IJspeert, P. Martin van Hagen, Nico J.M. van Beveren, Sandra M. Arend, Klaus Okkenhaug, Johan J.M. Pel, Virgil A.S.H. Dalm, Aleksandra Badura
Formato: article
Lenguaje:EN
Publicado: Elsevier 2021
Materias:
Primary immunodeficiency
PID
PIK3CD
APDS
ASD
Mouse
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Acceso en línea:https://doaj.org/article/27d8b652350244c4b767f51c4c9d81e3
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https://doaj.org/article/27d8b652350244c4b767f51c4c9d81e3

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