KEGG   VARIANT: 5133v1
Entry
5133v1                      Variant                                
Name
PDCD1 mutation
Type
Loss of function
Gene
PDCD1  programmed cell death 1 [KO:K06744]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600244
Network
nt06537  TCR/BCR signaling
Disease
H02540  Infantile-onset multisystem autoimmune disease
Reference
  Authors
Kristiansen OP, Larsen ZM, Pociot F
  Title
CTLA-4 in autoimmune diseases--a general susceptibility gene to autoimmunity?
  Journal
Genes Immun 1:170-84 (2000)
DOI:10.1038/sj.gene.6363655
Reference
  Authors
Beenen AC, Sauerer T, Schaft N, Dorrie J
  Title
Beyond Cancer: Regulation and Function of PD-L1 in Health and Immune-Related Diseases.
  Journal
Int J Mol Sci 23:ijms23158599 (2022)
DOI:10.3390/ijms23158599
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