KEGG   VARIANT: 9466v1
Entry
9466v1                      Variant                                
Name
IL27RA mutation
Type
Loss of function
Gene
IL27RA  interleukin 27 receptor subunit alpha [KO:K19598]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605350
Network
nt06518  JAK-STAT signaling
Disease
H01725  Primary immunodeficiency disease
Reference
  Authors
Martin E, Winter S, Garcin C, Tanita K, Hoshino A, Lenoir C, Fournier B, Migaud M, Boutboul D, Simonin M, Fernandes A, Bastard P, Le Voyer T, Roupie AL, Ben Ahmed Y, Leruez-Ville M, Burgard M, Rao G, Ma CS, Masson C, Soudais C, Picard C, Bustamante J, Tangye SG, Cheikh N, Seppanen M, Puel A, Daly M, Casanova JL, Neven B, Fischer A, Latour S
  Title
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
  Journal
Nature 628:620-629 (2024)
DOI:10.1038/s41586-024-07213-6
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