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CAPSULE SUMMARY: 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.

Original publication




Journal article


J Allergy Clin Immunol

Publication Date



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