Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist

Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist

Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have a genetic origin, but without conclusive evidences about it. We identified two brothers born prematurely from a non-consanguineous healthy couple, with a neonatal-onset, chronic disease charact...

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Bibliografske podrobnosti
Main Authors: Elena Urbaneja, Nuria Bonet, Manuel Solis-Moruno, Anna Mensa-Vilaro, Iñaki Ortiz de Landazuri, Marc Tormo, Rocio Lara, Susana Plaza, Virginia Fabregat, Jordi Yagüe, Ferran Casals, Juan I. Arostegui
Format: Article
Jezik:English
Izdano: Frontiers Media S.A. 2024-04-01
Serija:Frontiers in Immunology
Teme:
case report
interleukin-1
interleukin-1 receptor antagonist (IL-1 ra)
autoinflammatory diseases (AID)
whole-genome sequencing (WGS)
Online dostop:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1381447/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2024.1381447/full

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