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Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome
Gain of function (GOF) mutations affecting the inflammasome component NLRC4 are known to cause early-onset macrophage activation syndrome (MAS) and neonatal enterocolitis. Here we report a patient with a NLRC4 GOF mutation presenting with neonatal MAS efficiently treated with a combination of anakin...
Autores principales: | Barsalou, Julie, Blincoe, Annaliesse, Fernandez, Isabel, Dal-Soglio, Dorothée, Marchitto, Lorie, Selleri, Silvia, Haddad, Elie, Benyoucef, Aissa, Touzot, Fabien |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166634/ https://www.ncbi.nlm.nih.gov/pubmed/30319625 http://dx.doi.org/10.3389/fimmu.2018.02162 |
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