Article

Deficiency of Interleukin-1 Receptor Antagonist Due to Novel IL1RN Pathogenic Variants: A 40 Year-Long Journey Until Its Diagnosis

2023-07-17

Abstract excerpt

<title>Abstract</title> <p>Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have a genetic origin, but with not conclusive evidences about it. We identified two brothers born prematurely from a non-consanguineous healthy couple, with a neonatal-onset, chronic disease characterized by severe skin and bone inflammatory manifestations, and a fatal outcome in infan...

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Literature Corpus work: 3e23f14b-7a60-5b73-b717-f169781257c5
DOI: 10.21203/rs.3.rs-3153427/v1

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