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Invasive pulmonary aspergillosis is a serious threat to immunocompromised and critical care patients. Recent detailed guidelines and treatment algorithms lead microbiologists and clinicians in diagnosis and treatment of invasive aspergillosis. Currently, there is no tool available that allows to measure guideline adherence. To develop such a tool, we reviewed current guidelines provided by five scientific societies (European Society for Clinical Microbiology and Infectious Diseases, European Confederation of Medical Mycology, European Respiratory Society, Infectious Diseases Society of America (IDSA), and Infectious Diseases Working Party of the German Society for Hematology and Medical Oncology) and selected the strongest recommendations for management as key components for our scoring tool. We integrated diagnostic measures (chest computed tomography, bronchoalveolar lavage with galactomannan, fungal culture, fungal polymerase chain reaction analysis, species identification, susceptibility testing, histology with silver stain, Periodic acid-Schiff staining, and molecular diagnostics), treatment (antifungal choice and therapeutic drug monitoring), and follow-up computed tomography. The EQUAL Aspergillosis Score 2018 aggregates and weighs the components and provides a tool to support antifungal stewardship and to quantify guideline adherence., (© 2018 Blackwell Verlag GmbH.)

CARD9 deficiency (CANDF2; OMIM# 212050) is an autosomal-recessive monogenic inborn error of immunity conferring susceptibility to invasive fungal diseases, including the very distinct syndrome of spontaneous central nervous system candidiasis, in which opportunistic yeast of the genus Candida infect the central nervous system (either brain parenchyma and/or meninges) in the absence of trauma, chemotherapy or underlying systemic disease. We present a patient with spontaneous endophthalmitis of the right eye due to Candida albicans; further investigations revealed concomitant cerebral abscess. She had a history of left endophthalmitis due to the dematiaceous mould, Aureobasidium pullulans, 15 years earlier. Targeted sequencing of the CARD9 gene revealed 2 novel variants (c.184G>A and c.288C>T). Analysis in silico predicted each variant altered splicing, which was confirmed by sequencing of cDNA from proband and carrier offsprings: c.184G>A results in a 4-base pair frameshift deletion with loss of allelic expression; c.288C>T results in an in-frame 36-bp pair deletion with detectable protein. CARD9 deficiency can present with a phenotype of spontaneous candidal endophthalmitis. We report 2 novel mutations in CARD9, both affecting splicing, expanding the range of morbid variants causing CARD9 deficiency, emphasising the importance of both genomic and cDNA sequencing for this condition., (© 2017 Blackwell Verlag GmbH.)