KEGG   VARIANT: 29851v1
Entry
29851v1                      Variant                               
Name
ICOS mutation
Type
Loss of function
Gene
ICOS  inducible T cell costimulator [KO:K06713]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604558
Network
nt06537  TCR/BCR signaling
Disease
H00088  Common variable immunodeficiency
Reference
  Authors
Abolhassani H, El-Sherbiny YM, Arumugakani G, Carter C, Richards S, Lawless D, Wood P, Buckland M, Heydarzadeh M, Aghamohammadi A, Hambleton S, Hammarstrom L, Burns SO, Doffinger R, Savic S
  Title
Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.
  Journal
J Clin Immunol 40:277-288 (2020)
DOI:10.1007/s10875-019-00735-z
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