<p>We studied a child with life-threatening and recurrent respiratory tract infections, caused by multiple viruses including rhinovirus, influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5 by Whole Exome Sequencing. MDA5-deficiency is a novel inborn error of innate immunity that results in impaired dsRNA-sensing, reduced IFN induction, and susceptibility to the common cold virus.</p>

Rhinovirus Susceptibility in Human MDA5 Deficiency

Immunologic Deficiency Syndromes study with SNP Genotypes (NGS), WXS data on dbGaP (5 participants)

Rhinovirus Susceptibility in Human MDA5 Deficiency

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Summary