Name: Immunodeficiency 106 | Acronym: IMD106
Alt. names: IFNAR1 deficiency | Immunodeficiency 106, susceptibility to viral infections

Gene: IFNAR1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2019

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 619935

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It is characterized by increased susceptibility to viral infections beginning in infancy or early childhood. Some patients present with recurrent respiratory infections or other viral infections. In many cases, the susceptibility to viral infections only becomes apparent after initial vaccination with live attenuated viral (LAV) vaccines, most notably MMR and yellow fever. A subset of IMD106 patients who demonstrate adverse reactions to MMR or other LAV vaccinations develop a severe acute hyperinflammatory response reminiscent of hemophagocytic lymphohistiocytosis (HLH) and may show encephalopathy, acute respiratory distress syndrome, and multiorgan failure. However, some patients with IMD106 tolerate MMR vaccination without sequelae. IFNAR1 deficiency may also predispose to severe respiratory infection with SARS-CoV-2 and to herpes simplex virus-1 (HSV1) encephalitis (HSE). The disorder results from an impaired type I interferon signaling response (Bastard et al., 2022).[OMIM]

Description of management option has not been reviewed yet.