Name: Susceptibility to acute infection-induced encephalopathy type 1 | Acronym: IIAE1
Alt. names: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} | UNC93B1 deficiency

Gene: UNC93B1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2006

Last updated on: 2024-05-04 12:47:22 by Andrés Caballero-Oteyza

OMIM: 610551

Orphanet: -

MONDO: 0000166

DOID: -

ClinGen:

Condition reported by Casrouge et al. (2006) in 2 unrelated subjects with homozygous mutations and HSE induced by HSV-1 infection (PMID:16973841). The authors showed impaired cellular interferon (IFN)-alpha/beta and -delta in response to HSV-1 and 10 other viruses but had no other history of unusual infections and had effectively controlled infections by at least 9 other viruses. Of note, the patients' PBMCs produced normal levels of IFN-gamma, TNF-alpha, IL-1beta, and IL-6. These cellular responses resembled that described for mice lacking UNC93B.

Description of management option has not been reviewed yet.