Name: Immunodeficiency 45 | Acronym: IMD45
Alt. names:

Gene: IFNAR2 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2020

Last updated on: 2023-07-13 12:23:38 by Andrés Caballero-Oteyza

OMIM: 616669

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Condition first described by Duncan et al. in 2020 (PMID:35442417) in 5 unrelated children from Greenland, Canada, and Alaska, who all carried the same homozygous p.Ser53Pro missense variant and who were suspected to have a common Inuit ancestor, since the minor allele frequency of the variant in Inuits is 0.034. The patients presented with with life-threatening respiratory infections inclduing COVID-19 or influenza and with severe adverse reactions (e.g., meningoencephalitis and hemophagocytic lymphohistiocytosis) to live attenuated viral vaccination. In vitro studies showed impaired responses to alpha-interferon, impaired type I interferon response after stimulation, and increased vulnerability to multiple viruses.

Description of management option has not been reviewed yet.