id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-103630-nt3ogyzl	Deal, C. L.	Recurrent respiratory viral diseases and chronic sequelae due to dominant negative IFIH1	2020-07-06		.txt	text/plain	2147	146	51	Genomic sequencing identified compound heterozygous variants in the IFIH1 gene, encoding the protein Melanoma Differentiation Association Protein 5 (MDA5), a RIG-I-like cytoplasmic sensor of RNA intracellular infections. Furthermore, biallelic loss of function variants in IFIH1 result in severe infections due to common viral illnesses (2, 3) , and one study suggested a possible dominant negative role for heterozygous loss-of-function variants (1) . Patients with loss-of-function variants in IFIH1 are susceptible to common viral pathogens, particularly human rhinovirus. In summary, we present the oldest case of an individual suffering from compound heterozygous IFIH1 variants resulting in a phenotype of recurrent viral infections, nasal polyposis and chronic pansinusitis due to bacterial and fungal organisms, marked chronic eosinophilia, severe asthma with ground glass opacities and bronchiectasis, as well as neuropathy. Severe viral respiratory infections in children with IFIH1 loss-of-function mutations Loss-of-function mutations E627X and I923V of IFIH1 are associated with lower poly(I:C)-induced interferon-β production in peripheral blood mononuclear cells of type 1 diabetes patients	./cache/cord-103630-nt3ogyzl.txt	./txt/cord-103630-nt3ogyzl.txt