A young girl with severe cerebral fungal infection due to card 9 deficiency

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 191(2018) vom: 24. Juni, Seite 21-26
1. Verfasser:	Cetinkaya, Pinar Gur (VerfasserIn)
Weitere Verfasser:	Ayvaz, Deniz Cagdas, Karaatmaca, Betül, Gocmen, Rahsan, Söylemezoğlu, Figen, Bainter, Wayne, Chou, Janet, Chatila, Talal A, Tezcan, Ilhan
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2018
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Case Reports Journal Article Research Support, N.I.H., Extramural CARD9 deficiency Central nervous system infection Fungal infection NLRP12 CARD Signaling Adaptor Proteins CARD9 protein, human Codon, Nonsense mehr... Intracellular Signaling Peptides and Proteins NLRP12 protein, human

Beschreibung
Zusammenfassung:	Copyright © 2018. Published by Elsevier Inc. Pattern recognition receptors (PRRs), receptors of the innate immune system, are important in interaction with pathogens. Caspase Recruitment Domain-containing protein 9 (CARD9), a member of PRRs, is an intracellular adaptor protein important in fungal defense. CARD9 deficiency causes a rare primary immunodeficiency (PID) characterized by superficial and deep fungal infections. We report a 17year-old female with a homozygous nonsense mutation in CARD9, who presented with severe cerebral fungal infection of the central nervous system. She was also found to have an heterozygous NLRP12 mutation, which may have had add-on effect on the severity of the infection
Beschreibung:	Date Completed 05.07.2019 Date Revised 30.03.2022 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2018.01.002