Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
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Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency.Phosphoinositide-3-Kinase Signaling in Human Natural Killer Cells: New Insights from Primary Immunodeficiency.Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases.Herpesviruses in the Activated Phosphatidylinositol-3-Kinase-δ Syndrome.Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects
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P2860
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
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name
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
@en
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
@nl
type
label
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
@en
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
@nl
prefLabel
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
@en
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
@nl
P2093
P1433
P1476
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
@en
P2093
A Ferreira Cerdán
E López-Granados
F Santos Simarro
J Molina Garicano
L Del Pino Molina
M Bravo García-Morato
R Rodríguez Pena
S García-Miñaúr
P356
10.1016/J.CLIM.2017.03.004
P577
2017-03-13T00:00:00Z