Study
Susceptibility to Respiratory Infections Due to Autosomal Recessive IFIH1 Mutations
Study ID | Alternative Stable ID | Type |
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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 |
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dbGaP | phs001235 |
Who archives the data?
