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IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation
PURPOSE: Besides their developmental and neurological phenotype, most patients with MECP2/IRAK1 duplication syndrome present with recurrent and severe infections, accompanied by strong inflammation. Respiratory infections are the most common cause of death. Standardized pneumological diagnostics, ta...
Autores principales: | Gottschalk, Ilona, Kölsch, Uwe, Wagner, Dimitrios L., Kath, Jonas, Martini, Stefania, Krüger, Renate, Puel, Anne, Casanova, Jean-Laurent, Jezela-Stanek, Aleksandra, Rossi, Rainer, Chehadeh, Salima El, Van Esch, Hilde, von Bernuth, Horst |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9628328/ https://www.ncbi.nlm.nih.gov/pubmed/36319802 http://dx.doi.org/10.1007/s10875-022-01390-7 |
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