VARIANT: 5294v1
Help
Entry
5294v1 Variant
Name
PIK3CG mutation
Type
Loss of function
Gene
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma [KO:
K21289
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
601232
Network
nt06530
PI3K signaling
Disease
H00093
Combined immunodeficiency
Reference
PMID:
31554793
Authors
Takeda AJ, Maher TJ, Zhang Y, Lanahan SM, Bucklin ML, Compton SR, Tyler PM, Comrie WA, Matsuda M, Olivier KN, Pittaluga S, McElwee JJ, Long Priel DA, Kuhns DB, Williams RL, Mustillo PJ, Wymann MP, Koneti Rao V, Lucas CL
Title
Human PI3Kgamma deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology.
Journal
Nat Commun 10:4364 (2019)
DOI:
10.1038/s41467-019-12311-5
LinkDB
All DBs
DBGET
integrated database retrieval system
