KEGG   VARIANT: 3710v2
Entry
3710v2                      Variant                                
Name
ITPR3 gain of function mutation
Type
Gain of function
Gene
ITPR3  inositol 1,4,5-trisphosphate receptor type 3 [KO:K04960]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147267
Network
nt06528  Calcium signaling
nt06537  TCR/BCR signaling
Disease
H00093  Combined immunodeficiency
Reference
  Authors
Blanco E, Camps C, Bahal S, Kerai MD, Ferla MP, Rochussen AM, Handel AE, Golwala ZM, Spiridou Goncalves H, Kricke S, Klein F, Zhang F, Zinghirino F, Evans G, Keane TM, Lizot S, Kusters MAA, Iro MA, Patel SV, Morris EC, Burns SO, Radcliffe R, Vasudevan P, Price A, Gillham O, Valdebenito GE, Stewart GS, Worth A, Adams SP, Duchen M, Andre I, Adams DJ, Santili G, Gilmour KC, Hollander GA, Davies EG, Taylor JC, Griffiths GM, Thrasher AJ, Dhalla F, Kreins AY
  Title
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
  Journal
J Exp Med 222:277095 (2025)
DOI:10.1084/jem.20220979
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