Autoinflammation in Patients with Leukocytic CBL Loss of Heterozygosity Is Caused by Constitutive ERK-Mediated Monocyte Activation

Scientists observed an upregulation of patients’ inflammatory gene expression signature in whole blood, mimicking monogenic inborn errors underlying autoinflammation. Remarkably, these patients had constitutively activated monocytes that secreted 10 to 100 times more inflammatory cytokines than healthy individuals and CBL loss-of-function heterozygotes without loss of heterozygosity.