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| Formato: | Artículo Open Access |
| Publicado: |
Wiley
2026
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| Materias: | |
| Acceso en línea: | https://onlinelibrary.wiley.com/doi/10.1111/jpc.70421 |
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| _version_ | 1867019555519332352 |
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| author | 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 |
| author_facet | 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 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 |
| collection | Wiley Open Access |
| contents | 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 Journal of Paediatrics and Child Health 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. 10.1111/jpc.70421 http://creativecommons.org/licenses/by/4.0/ |
| doi_str_mv | 10.1111/jpc.70421 |
| format | Artículo Open Access |
| id | wiley_oa_10_1111_jpc_70421 |
| institution | Wiley Open Access |
| license_str_mv | http://creativecommons.org/licenses/by/4.0/ |
| publishDate | 2026 |
| publisher | Wiley |
| record_format | wiley_oa |
| spellingShingle | 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 Journal of Paediatrics and Child Health 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 Journal of Paediatrics and Child Health 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. 10.1111/jpc.70421 http://creativecommons.org/licenses/by/4.0/ |
| title | Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania |
| topic | Journal of Paediatrics and Child Health |
| url | https://onlinelibrary.wiley.com/doi/10.1111/jpc.70421 |