Publications by authors named "E Birckel"

Purpose: Heterozygous missense mutations leading to a gain of function (GOF) are the most frequent genetic cause of chronic mucocutaneous candidiasis (CMC). We describe the case of a patient presenting a new GOF mutation of with the clinical symptoms of CMC, recurrent pneumonia, and persistent central erythema with papulopustules with ocular involvement related to rosacea-like demodicosis.

Methods: Genetic analysis targeted next-generation sequencing (NGS; NGS panel DIPAI v.

View Article and Find Full Text PDF

Introduction: Capnocytophagacanimorsus (C. canimorsus), a commensal Gram-negative bacillus found in the oral cavity of dogs and cats, is pathogenic for humans, with the most common clinical manifestations being septicemia, meningitis and endocarditis. Herein we report a case of CC bacteremia manifesting as multiple plaques of erythema annulare centrifugum associated with monoarthritis of the knee.

View Article and Find Full Text PDF