Prototheca zopfii Colitis in Inherited CARD9 Deficiency.
J Infect Dis
; 218(3): 485-489, 2018 07 02.
Article
em En
| MEDLINE
| ID: mdl-29659908
ABSTRACT
Human protothecosis is a rare microalgae infection, and its dissemination typically occurs in immunocompromised individuals, but no specific immune defect has been reported. Here, we describe an 8-year-old daughter of a consanguineous union with abdominal pain and bloody diarrhea for 3 months who was found to have pancolitis with numerous microalgae identified as Prototheca zopfii. In the absence of a known immunodeficiency, exome sequencing was performed, which uncovered a novel recessive frameshift mutation in CARD9 (p.V261fs). This report highlights that CARD9 deficiency should be investigated in patients with unexplained systemic/visceral protothecosis and suggests a new mechanistic insight into anti-Prototheca immunity.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Prototheca
/
Candidíase Mucocutânea Crônica
/
Colite
/
Proteínas Adaptadoras de Sinalização CARD
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
J Infect Dis
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Turquia