Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations

Study ID Alternative Stable ID Type
phs001235 Case-Control

Study Description

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.

Archive Link Archive Accession
dbGaP phs001235

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