Impaired RASGRF1/ERK–mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians

C Gavino, N Hamel, JB Zeng, C Legault… - Journal of Allergy and …, 2016 - Elsevier
Background Caspase recruitment domain-containing protein 9 (CARD9) deficiency is an
autosomal recessive primary immunodeficiency conferring human susceptibility to invasive
fungal disease, including spontaneous central nervous system candidiasis (sCNSc).
However, clinical characterization of sCNSc is variable, hindering its recognition.
Furthermore, an in-depth understanding of the bases for this susceptibility has remained
elusive. Objectives We sought to comprehensively characterize sCNSc and to dissect the …