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An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus

We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleu...

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Détails bibliographiques
Auteurs principaux: Reddy, Sreelatha, Jia, Shuang, Geoffrey, Rhonda, Lorier, Rachel, Suchi, Mariko, Broeckel, Ulrich, Hessner, Martin J., Verbsky, James
Format: Artigo
Langue:Inglês
Publié: 2009
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2803085/
https://ncbi.nlm.nih.gov/pubmed/19494219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0809568
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