Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

doi:10.1084/jem.20161759

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Article

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

The Journal of experimental medicine - 3 Jul 2017

Lamborn Ian T, Jing Huie, Zhang Yu, Drutman Scott B, Abbott Jordan K, Munir Shirin, Bade Sangeeta, Murdock Heardley M, Santos Celia P, Brock Linda G, Masutani Evan, Fordjour Emmanuel Y, McElwee Joshua J, Hughes Jason D, Nichols Dave P, Belkadi Aziz, Oler Andrew J, Happel Corinne S, Matthews Helen F, Abel Laurent, Collins Peter L, Subbarao Kanta, Gelfand Erwin W, Ciancanelli Michael J, Casanova Jean-Laurent, Su Helen C

Abstract excerpt

MDA5 is a cytosolic sensor of double-stranded RNA (ds)RNA including viral byproducts and intermediates. We studied a child with life-threatening, recurrent respiratory tract infections, caused by viruses including human rhinovirus (HRV), influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5. Mutant MDA5 was expressed but did not...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Interferon-Induced Helicase, IFIH1

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Identifiers

PMID: 28606988
DOI: 10.1084/jem.20161759
PMCID: PMC5502429

Genes

IFIH1
IFNB1

Provenance

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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