title: Endogenous Candida endophthalmitis and osteomyelitis associated with CARD9 deficiency.
abstract: A 25-year-old woman presented with unilateral red eye and visual blur, and was found to have panuveitis with an inflammatory white mass at the macula, initially presumed to be Toxoplasma retinitis. After failure to respond, she underwent vitrectomy, which produced Candida albicans. Despite intraocular and systemic antifungal treatment, she lost all vision in that eye. Two years later, she developed unilateral hip osteomyelitis leading to total hip replacement and also revealing Candida infection. By clinical exome sequencing, she was then found to have caspase recruitment domain 9 (CARD9) deficiency, an autosomal recessive disorder that causes a specific susceptibility to candidal infections. She remains otherwise well but on lifelong fluconazole prophylaxis.
authors.affiliation: Manchester Royal Eye Hospital, Manchester, UK.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Jones
authors.affiliation: Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
authors.forename: Tomaz
authors.initials: T
authors.lastname: Garcez
authors.affiliation: University of Manchester, Manchester, UK.
authors.forename: William
authors.initials: W
authors.lastname: Newman
authors.affiliation: University of Manchester, Manchester, UK.
authors.forename: David
authors.initials: D
authors.lastname: Denning
mesh_terms: D000328:Adult; D000935:Antifungal Agents / Q000627:therapeutic use; D053468:CARD Signaling Adaptor Proteins / Q000172:deficiency* / Q000235:genetics; D002176:Candida albicans / Q000302:isolation & purification; D002177:Candidiasis / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D009877:Endophthalmitis / Q000188:drug therapy / Q000235:genetics / Q000382:microbiology*; D059472:Exome; D005260:Female; D015725:Fluconazole / Q000627:therapeutic use; D006801:Humans; D010019:Osteomyelitis / Q000235:genetics / Q000382:microbiology* / Q000601:surgery; D017422:Sequence Analysis, DNA
chemical_list: D000935:Antifungal Agents; D053468:CARD Signaling Adaptor Proteins; C505855:CARD9 protein, human; D015725:Fluconazole