Janus kinase inhibition for autoinflammation in DNASE2 deficiency.

Journal of Allergy and Clinical Immunology（2020）

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摘要

We characterise the immunopathogenesis of autoinflammation, HLH, and early onset intestinal inflammation caused by homozygous mutation in DNASE2, and provide the first description of favourable therapeutic response to JAK1/JAK2 blockade in this disease.

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关键词

DNASE2 deficiency,JAK inhibition,Type I Interferon,autoinflammation,baricitinib,early-onset intestinal inflammation,haemophagocytic lymphohistiocytosis

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