Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.

doi:10.1007/s10875-020-00803-9

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Article

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.

Journal of clinical immunology - 1 Aug 2020

Kong Xiao-Fei, Worley Lisa, Rinchai Darawan, Bondet Vincent, Jithesh Puthen Veettil, Goulet Marie, Nonnotte Emilie, Rebillat Anne Sophie, Conte Martine, Mircher Clotilde, Gürtler Nicolas, Liu Luyan, Migaud Mélanie, Elanbari Mohammed, Habib Tanwir, Ma Cindy S, Bustamante Jacinta, Abel Laurent, Ravel Aimé, Lyonnet Stanislas, Munnich Arnold, Duffy Darragh, Chaussabel Damien, Casanova Jean-Laurent, Tangye Stuart G, Boisson-Dupuis Stéphanie, Puel Anne

Abstract excerpt

Down syndrome (DS) is characterized by the occurrence of three copies of human chromosome 21 (HSA21). HSA21 contains a cluster of four interferon receptor (IFN-R) genes: IFNAR1, IFNAR2, IFNGR2, and IL10RB. DS patients often develop mucocutaneous infections and autoimmune diseases, mimicking patients with heterozygous gain-of-function (GOF) STAT1 mutations, which enhance cellular responses to three types of...

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Identifiers

PMID: 32572726
DOI: 10.1007/s10875-020-00803-9
PMCID: PMC7418179

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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