Journal of paediatrics and child health · 2026
Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Verryt Cecilia, Gray Paul, McNaughton Peter, Peake Jane, Wong Melanie, Aho George, Best Emma, Brewerton Maia, Lutui Flora, Tulifau Litara Esera, Qin Rebecca, Viali Satupa'itea, White Petine, Wood Andrew, Woon See-Tarn, Cole Theresa, Charry Alberto Pinzon, Hsiao Kuang-Chih
Аннотация
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.