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

Cecilia Verryt; Paul Gray; Peter McNaughton; Jane Peake; Melanie Wong; George Aho; Emma Best; Maia Brewerton; Flora Lutui; Litara Esera Tulifau; Rebecca Qin; Satupa‘itea Viali; Petine White; Andrew Wood; See Tarn Woon; Theresa Cole; Alberto Pinzon Charry; Kuang Chih Hsiao

doi:10.1111/jpc.70421

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

Cecilia Verryt
, Paul Gray
, Peter McNaughton
, Jane Peake
, Melanie Wong
, George Aho
, Emma Best
, Maia Brewerton
, Flora Lutui
, Litara Esera Tulifau
, Rebecca Qin
, Satupa‘itea Viali
, Petine White
, Andrew Wood
, See Tarn Woon
, Theresa Cole
, Alberto Pinzon Charry
, Kuang Chih Hsiao

Western Sydney University

Auckland District Health Board
The University of Auckland
Tauranga Hospital
Sydney Children's Hospital
Children’s Health Queensland
University of Queensland
The Children's Hospital at Westmead
Vaiola Hospital
Tupua Tamasese Meaole Hospital
Women's and Children's Hospital Adelaide
Oceania University of Medicine
Royal Children's Hospital Melbourne
Murdoch Children's Research Institute
University of Melbourne
Griffith University Queensland

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	Journal of Paediatrics and Child Health
DOIs	https://doi.org/10.1111/jpc.70421
Publication status	E-pub ahead of print (In Press) - 2026

Bibliographical note

Publisher Copyright:
© 2026 The Author(s). Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

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10.1111/jpc.70421

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Verryt, C., Gray, P., McNaughton, P., Peake, J., Wong, M., Aho, G., Best, E., Brewerton, M., Lutui, F., Tulifau, L. E., Qin, R., Viali, S., White, P., Wood, A., Woon, S. T., Cole, T., Charry, A. P., & Hsiao, K. C. (Accepted/In press). Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania. Journal of Paediatrics and Child Health. https://doi.org/10.1111/jpc.70421

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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.",

author = "Cecilia Verryt and Paul Gray and Peter McNaughton and Jane Peake and Melanie Wong and George Aho and Emma Best and Maia Brewerton and Flora Lutui and Tulifau, \{Litara Esera\} and Rebecca Qin and Satupa{\textquoteleft}itea Viali and Petine White and Andrew Wood and Woon, \{See Tarn\} and Theresa Cole and Charry, \{Alberto Pinzon\} and Hsiao, \{Kuang Chih\}",

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AU - Viali, Satupa‘itea

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PY - 2026

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N2 - 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.

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

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