KEGG   VARIANT: 940v1
Entry
940v1                      Variant                                 
Name
CD28 mutation
Type
Loss of function
Gene
CD28  CD28 molecule [KO:K06470]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 186760
Network
nt06537  TCR/BCR signaling
Disease
H02526  Disorders of adaptive immunity
Reference
  Authors
Beziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet E, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot E, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Pretet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL
  Title
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
  Journal
Cell 184:3812-3828.e30 (2021)
DOI:10.1016/j.cell.2021.06.004
LinkDB

DBGET integrated database retrieval system