KEGG   VARIANT: 915v1
Entry
915v1                      Variant                                 
Name
CD3D mutation
Type
Loss of function
Gene
CD3D  T-cell surface glycoprotein CD3 delta chain isoform A precursor [KO:K06450]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 186790
Network
nt06537  TCR/BCR signaling
Disease
H00091  T-B+Severe combined immunodeficiency
H00093  Combined immunodeficiency
Reference
PMID:35091087
  Authors
Latour S
  Title
Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.
  Journal
Biomed J 45:321-333 (2022)
DOI:10.1016/j.bj.2022.01.013
LinkDB

KEGG   VARIANT: 916v1
Entry
916v1                      Variant                                 
Name
CD3E mutation
Type
Loss of function
Gene
CD3E  T-cell surface glycoprotein CD3 epsilon chain precursor [KO:K06451]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 186830
Network
nt06537  TCR/BCR signaling
Disease
H00091  T-B+Severe combined immunodeficiency
H00093  Combined immunodeficiency
Reference
PMID:35091087
  Authors
Latour S
  Title
Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.
  Journal
Biomed J 45:321-333 (2022)
DOI:10.1016/j.bj.2022.01.013
LinkDB

KEGG   VARIANT: 917v1
Entry
917v1                      Variant                                 
Name
CD3G mutation
Type
Loss of function
Gene
CD3G  T-cell surface glycoprotein CD3 gamma chain precursor [KO:K06452]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 186740
Network
nt06537  TCR/BCR signaling
Disease
H00091  T-B+Severe combined immunodeficiency
H00093  Combined immunodeficiency
Reference
PMID:35091087
  Authors
Latour S
  Title
Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.
  Journal
Biomed J 45:321-333 (2022)
DOI:10.1016/j.bj.2022.01.013
LinkDB

KEGG   VARIANT: 919v1
Entry
919v1                      Variant                                 
Name
CD247 mutation
Type
Loss of function
Gene
CD247  T-cell surface glycoprotein CD3 zeta chain isoform 1 precursor [KO:K06453]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 186780
Network
nt06537  TCR/BCR signaling
Disease
H00091  T-B+Severe combined immunodeficiency
H00093  Combined immunodeficiency
Reference
PMID:35091087
  Authors
Latour S
  Title
Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.
  Journal
Biomed J 45:321-333 (2022)
DOI:10.1016/j.bj.2022.01.013
LinkDB

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