Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a similar clinical profile to APDS1, caused by heterozygous gain-of-function (GOF) mutations in PIK3CD (encoding the PI3K p1...

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Autores principales: Nguyen, Tina, Lau, Anthony, Bier, Julia, Cooke, Kristen C., Lenthall, Helen, Ruiz-Diaz, Stephanie, Avery, Danielle T., Brigden, Henry, Zahra, David, Sewell, William A, Droney, Luke, Okada, Satoshi, Asano, Takaki, Abolhassani, Hassan, Chavoshzadeh, Zahra, Abraham, Roshini S., Rajapakse, Nipunie, Klee, Eric W., Church, Joseph A., Williams, Andrew, Wong, Melanie, Burkhart, Christoph, Uzel, Gulbu, Croucher, David R., James, David E., Ma, Cindy S., Brink, Robert, Tangye, Stuart G., Deenick, Elissa K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037341/
https://www.ncbi.nlm.nih.gov/pubmed/36943234
http://dx.doi.org/10.1084/jem.20221020

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