Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania
Year: 2026
Type: article
Abstract: Autosomal recessive interferon alpha and beta receptor subunit 1 (IFNAR1) deficiency is a rare and heritable inborn error of immunity (IEI) predisposing individuals to severe and life-threatening viral infections. It is more common in people of Western Polynesian ancestry, with estimates of around one in six thousand live births affected, due to being homozygous for or having two copies of the regionally relevant pathogenic IFNAR1 variant c.1156G>T, p.Glu386*. IFNAR1 deficiency confers an increased risk of severe and life-threatening infections caused by naturally circulating viruses including influenza, SARS-CoV-2, herpes simplex virus, respiratory syncytial virus (RSV), arboviruses and viruses in live attenuated vaccines (LAVs) including measles-mumps-rubella (MMR) and yellow fever. Complications including virus induced systemic hyperinflammation (VISH) are associated with significant mortality. This document outlines expert consensus regarding early identification, diagnostic workup and management of IFNAR1 deficiency in Australia, Aotearoa New Zealand and Western Pacific nations.
DOI: 10.1111/jpc.70421
Institutions: University of Auckland, Tauranga Hospital, Starship Children's Health, Sydney Children's Hospital, Western Sydney University, The University of Queensland, Children's Health Queensland Hospital and Health Service, Children's Hospital at Westmead, Ministry of Health, Auckland City Hospital, Health New Zealand, West End Hospital, Saiseikai Wakakusa Hospital, Women's and Children's Hospital, Women's and Children's Health Network, Oceania University of Medicine, Royal Children's Hospital, The University of Melbourne, Murdoch Children's Research Institute, Griffith University
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,150
OpenAlex ID: W7160955998