Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition
Y Gernez, AA de Jesus, H Alsaleem… - Journal of Allergy and …, 2019 - jacionline.org
To the Editor: Autoinflammatory syndromes are caused by dysregulation of the innate
immune system, often affecting the inflammasome and other pathogen recognition pathways
that lead to overproduction of IL-1b and IL-18. 1 Here we report 4 patients with severe
autoinflammatory syndrome, presenting with cytopenias, rashes, and a significant increase
in serum IL-18 levels secondary to novel specific mutations in cell division control protein 42
homolog (CDC42). CDC42 encodes a small Rho family GTPase that regulates multiple …
immune system, often affecting the inflammasome and other pathogen recognition pathways
that lead to overproduction of IL-1b and IL-18. 1 Here we report 4 patients with severe
autoinflammatory syndrome, presenting with cytopenias, rashes, and a significant increase
in serum IL-18 levels secondary to novel specific mutations in cell division control protein 42
homolog (CDC42). CDC42 encodes a small Rho family GTPase that regulates multiple …