Guideline for the Diagnosis and Management of Heritable <scp>IFNAR1</scp> Deficiency in Oceania

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.

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Journal
Journal of Paediatrics and Child Health
Published
2026-05-11
DOI
https://doi.org/10.1111/jpc.70421
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania

Alberto Pinzon Charry, Kuang‐Chih Hsiao, Satupaitea Viali, Maia Brewerton et al.
Journal of Paediatrics and Child Health
Immunodeficiency and Autoimmune Disorders
article

Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania

Alberto Pinzon Charry, Kuang‐Chih Hsiao, Satupaitea Viali, Maia Brewerton, Litara Esera Tulifau, George Aho, Melanie Wong, Theresa Cole, P F White, Flora Lutui, Cecilia Verryt, Paul Gray, Andrew Wood, Peter McNaughton, Rebecca Qin, Jane Peake, Emma Best, See‐Tarn Woon
article en

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.

Journal of Paediatrics and Child Health
Griffith University (AU), Royal Children's Hospital (AU), University of Auckland (NZ), The University of Queensland (AU), The University of Melbourne (AU), National University of Samoa (WS), Women's and Children's Hospital (AU), Auckland City Hospital (NZ), Children's Hospital at Westmead (AU), Auckland University of Technology (NZ), Ministry of Health (TO), Tauranga Hospital (NZ), Ministry of Health (LA), Sydney Children's Hospital (AU), Natus (New Zealand) (NZ), Starship Children's Health (NZ), Murdoch Children's Research Institute (AU), Children's Health Queensland Hospital and Health Service (AU), Western Sydney University (AU)
Good health and well-being
Openalex Percentile: Top 7%
Immunodeficiency and Autoimmune Disorders
DOIOpen Access PDFOpenAlex
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