KEGG   VARIANT: 920v1
Entry
920v1                      Variant                                 
Name
CD4 mutation
Type
Loss of function
Gene
CD4  CD4 molecule [KO:K06454]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 186940
Network
nt06537  TCR/BCR signaling
Disease
H02526  Disorders of adaptive immunity
Reference
  Authors
Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I
  Title
Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
  Journal
J Infect Dis 223:645-654 (2021)
DOI:10.1093/infdis/jiab025
LinkDB

DBGET integrated database retrieval system