Janus kinase inhibition for autoinflammation in DNASE2 deficiency

Ying Hong,Melania Capitani,Claire Murphy,Sumeet Pandey,Athena Cavounidis,Haruo Takeshita,Sira Nanthapisal,Toshihiro Yasuda,Brigitte Bader-Meunier,Dara McCreary,Ebun Omoyinmi,Anupama Rao,Claire Booth,Kimberly Gilmour,Neil J. Sebire,Neil Shah,Nigel Klein,Alex N. Bullock,Despina Eleftheriou,Holm H. Uhlig,Paul A. Brogan

Janus kinase inhibition for autoinflammation in DNASE2 deficiency

2019

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.

Keywords:

Immunology
Janus kinase
Pharmacology
Baricitinib
Medicine
intestinal inflammation
early onset
Capsule
Mutation
Disease
Blockade

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