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Novel UNC13D intronic variant disrupting a NFκB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis
OBJECTIVE: Macrophage activation syndrome (MAS) is a life-threatening complication of systemic juvenile idiopathic arthritis (SJIA), and has pathologic similarity to hemophagocytic lymphohistiocytosis (HLH). Intronic variants in UNC13D are found in patients with familial HLH-3 (FHL3), but the role o...
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Publicado no: | Arthritis Rheumatol |
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Main Authors: | , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2018
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5984660/ https://ncbi.nlm.nih.gov/pubmed/29409136 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.40438 |
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