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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

DOI

10.1016/j.jaci.2019.11.020

Type

Journal article

Journal

J Allergy Clin Immunol

Publication Date

24/11/2019

Keywords

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