Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both

Journal of Allergy and Clinical Immunology

Volumn 135, Issue 6, 2015, Pages 1558-1568.e2

  Lanternier, Fanny ^a,b,c   Mahdaviani, Seyed Alireza ^d   Barbati, Elisa ^a,b   Chaussade, Hélène ^f   Koumar, Yatrika ^g   Levy, Romain ^a,b   Denis, Blandine ^b,c   Brunel, Anne Sophie ^g   Martin, Sophie ^h   Loop, Michèle ⁱ   Peeters, Julie ^h   De Selys, Ariel ⁱ   Vanclaire, Jean ⁱ   Vermylen, Christiane ^h   Nassogne, Marie Cécile ^h   Chatzis, Olga ^h   Liu, Luyan ^a,b   Migaud, Mélanie ^a,b   Pedergnana, Vincent ^a,b   Desoubeaux, Guillaume ^f   Jouvion, Gregory ^j   Chretien, Fabrice ^j,k   Darazam, Ilad Alavi ^e   Schäffer, Alejandro A ^l   Netea, Mihai G ^m   De Bruycker, Jean J ⁿ   Bernard, Louis ^f   Reynes, Jacques ^g   Amazrine, Noureddine ^o   Abel, Laurent ^a,b,p   Van Der Linden, Dimitri ^h   Harrison, Tom ^q   Picard, Capucine ^a,b,c,o   Lortholary, Olivier ^b,c,j   Mansouri, Davood ^e   Casanova, Jean Laurent ^a,b,c,p,r   Puel, Anne ^a,b   more..

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f CHU BRETONNEAU   (France)

^g Infectious Disease Therapeutic Strategic Unit   (France)

^h CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

ⁱ St Jean Hosp   (Belgium)

^j INSTITUT PASTEUR   (France)

^k CENTRE HOSPITALIER SAINTE ANNE   (France)

^l NATIONAL INSTITUTES OF HEALTH   (United States)

^m RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁿ UNIVERSITY OF MONTREAL   (Canada)

^o Saint George's University of London ^*  (Morocco)

^p ROCKEFELLER UNIVERSITY   (United States)

^q ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^r HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

Candida species; central nervous system; colitis; human; Inborn error of immunity; inherited CARD9 deficiency; invasive fungal diseases; primary immunodeficiency

Indexed keywords

AMPHOTERICIN B LIPID COMPLEX; FLUCONAZOLE; FLUCYTOSINE; ITRACONAZOLE; POSACONAZOLE; CARD9 PROTEIN, HUMAN; CASPASE RECRUITMENT DOMAIN SIGNALING PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BRAIN ABSCESS; BRAIN BIOPSY; CANDIDA GLABRATA; CASPASE RECRUITMENT DOMAIN FAMILY MEMBER 9 DEFICIENCY; CEREBROSPINAL FLUID; CEREBROSPINAL FLUID PRESSURE; CHILD; CLINICAL ARTICLE; COLITIS; COMPUTER ASSISTED TOMOGRAPHY; CONTRAST ENHANCEMENT; CONTROLLED STUDY; DENDRITIC CELL; DISEASE ASSOCIATION; ENZYME DEFICIENCY; ESOPHAGUS CANDIDIASIS; EXOPHIALA; EXOPHIALA DERMATITIDIS; FACIAL NERVE PARALYSIS; FEMALE; FEVER; GENE SEQUENCE; GIANT CELL GRANULOMA; HEADACHE; HEMIPLEGIA; HISTOPLASMOSIS; HUMAN; HYPHOMYCETES; LUMBAR PUNCTURE; MALE; MENINGOENCEPHALITIS; MOROCCAN; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONYCHOMYCOSIS; PAKISTANI; PRIORITY JOURNAL; PTOSIS; SACCHAROMYCES CEREVISIAE; THRUSH; TRANSESOPHAGEAL ECHOCARDIOGRAPHY; TREATMENT OUTCOME; TRICHOPHYTON; TUBERCULOUS LYMPHADENITIS; VAGINA CANDIDIASIS; VOMITING; CANDIDA; CASE REPORT; CENTRAL NERVOUS SYSTEM; CONSANGUINITY; DEFICIENCY; DNA SEQUENCE; GASTROINTESTINAL TRACT; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; GENETICS; HOMOZYGOTE; IMMUNOLOGY; INVASIVE CANDIDIASIS; MICROBIOLOGY; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; CANDIDA; CANDIDIASIS, INVASIVE; CARD SIGNALING ADAPTOR PROTEINS; CENTRAL NERVOUS SYSTEM; CHILD; COLITIS; CONSANGUINITY; FEMALE; GASTROINTESTINAL TRACT; GENE EXPRESSION; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; MALE; MENINGOENCEPHALITIS; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84938918195     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.12.1930     Document Type: Article

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