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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Vydáno v:Arthritis Rheumatol
Hlavní autoři: Schulert, Grant S., Zhang, Mingce, Husami, Ammar, Fall, Ndate, Brunner, Hermine, Zhang, Kejian, Cron, Randy Q., Grom, Alexei A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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On-line přístup: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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