Janus kinase inhibition for autoinflammation in DNASE2 deficiency.
Hong Y., Capitani M., Murphy C., Pandey S., Cavounidis A., Takeshita H., Nanthapisal S., Yasuda T., Bader-Meunier B., McCreary D., Omoyinmi E., Rao A., Booth C., Gilmour K., Sebire N., Shah N., Klein N., Bullock AN., Eleftheriou D., Uhlig HH., Brogan P.
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.