KEGG VARIANT: 4940v1

VARIANT: 4940v1

Entry

4940v1                      Variant

Name

OAS1 gain-of-function mutation

Type

Gain of function

Gene

OAS3 2'-5'-oligoadenylate synthetase 3 [KO:K14216]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 164350

Network

nt06521 NLR signaling

Disease

H01725

Primary immunodeficiency disease

Reference

PMID:34145065

Authors

Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F

Title

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.

Journal

Sci Immunol 6:6/60/eabf9564 (2021)
DOI:10.1126/sciimmunol.abf9564

LinkDB

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