KEGG   VARIANT: 975v1
Entry
975v1                      Variant                                 
Name
CD81 mutation
Type
Loss of function
Gene
CD81  CD81 molecule [KO:K06508]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 186845
Network
nt06537  TCR/BCR signaling
Disease
H00088  Common variable immunodeficiency
Reference
PMID:20237408
  Authors
van Zelm MC, Smet J, Adams B, Mascart F, Schandene L, Janssen F, Ferster A, Kuo CC, Levy S, van Dongen JJ, van der Burg M
  Title
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency.
  Journal
J Clin Invest 120:1265-74 (2010)
DOI:10.1172/JCI39748
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