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

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

Copyright © 2018. Published by Elsevier Inc.

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
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520 |a 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 
650 4 |a Case Reports 
650 4 |a Journal Article 
650 4 |a Research Support, N.I.H., Extramural 
650 4 |a CARD9 deficiency 
650 4 |a Central nervous system infection 
650 4 |a Fungal infection 
650 4 |a NLRP12 
650 7 |a CARD Signaling Adaptor Proteins  |2 NLM 
650 7 |a CARD9 protein, human  |2 NLM 
650 7 |a Codon, Nonsense  |2 NLM 
650 7 |a Intracellular Signaling Peptides and Proteins  |2 NLM 
650 7 |a NLRP12 protein, human  |2 NLM 
700 1 |a Ayvaz, Deniz Cagdas  |e verfasserin  |4 aut 
700 1 |a Karaatmaca, Betül  |e verfasserin  |4 aut 
700 1 |a Gocmen, Rahsan  |e verfasserin  |4 aut 
700 1 |a Söylemezoğlu, Figen  |e verfasserin  |4 aut 
700 1 |a Bainter, Wayne  |e verfasserin  |4 aut 
700 1 |a Chou, Janet  |e verfasserin  |4 aut 
700 1 |a Chatila, Talal A  |e verfasserin  |4 aut 
700 1 |a Tezcan, Ilhan  |e verfasserin  |4 aut 
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773 1 8 |g volume:191  |g year:2018  |g day:24  |g month:06  |g pages:21-26 
856 4 0 |u http://dx.doi.org/10.1016/j.clim.2018.01.002  |3 Volltext 
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