Functional and genetic characterization of two extremely rare cases of Williams-Beuren Syndrome associated with chronic granulomatous disease

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1079-1084

  Stasia, Marie J ^a   Mollin, Michèle ^a   Martel, Cécile ^a   Satre, Véronique ^b,c   Coutton, Charles ^b,c   Amblard, Florence ^b   Vieville, Gaëlle ^b   Van Montfrans, Joris M ^d   Boelens, Jaap J ^e   Veenstra Knol, Hermine E ^f   Van Leeuwen, Karen ^g   De Boer, Martin ^g   Brion, Jean Paul ^b   Roos, Dirk ^g  

^a LABORATOIRE TIMC IMAG   (France)

^b GRENOBLE UNIVERSITY HOSPITAL   (France)

^c UNIV GRENOBLE ALPES   (France)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

chronic granulomatous disease; NADPH oxidase; Nox; p47phox; ROS production; Williams Beuren syndrome

Indexed keywords

BUSULFAN; CASPOFUNGIN; CIPROFLOXACIN; CLINDAMYCIN; COTRIMOXAZOLE; CYCLOSPORIN A; DOXYCYCLINE; ENALAPRIL; FLUDARABINE; GAMMA INTERFERON; HYDROCHLOROTHIAZIDE; IMMUNOGLOBULIN G ANTIBODY; IMMUNOGLOBULIN M ANTIBODY; ITRACONAZOLE; NEUTROPHIL CYSTOSOLIC FACTOR 1; PREDNISONE; PROTEIN P47; RAMIPRIL; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; THYMOCYTE ANTIBODY; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; ANTIBIOTIC THERAPY; AORTA SUPRAVALVULAR STENOSIS; ARTICLE; BACTERIAL INFECTION; BALLOON DILATATION; BARTONELLA HENSELAE; BLOOD SAMPLING; CASE REPORT; CHILD; CHROMOSOME BAND; CHRONIC GRANULOMATOUS DISEASE; CLINICAL FEATURE; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; COXIELLA BURNETII; CRANIOFACIAL MALFORMATION; DRUG TREATMENT FAILURE; EPITHELIOID CELL; FEEDING DIFFICULTY; FEVER; FLUORESCENCE IN SITU HYBRIDIZATION; FRANCE; GENE DELETION; GENERAL CONDITION DETERIORATION; GENETIC ASSOCIATION; GENOTYPE; GRAFT VERSUS HOST REACTION; GRANULOCYTE; GRANULOMATOUS HEPATITIS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOSPITALIZATION; HUMAN; HYPERCALCIURIA; HYPERTENSION; IMMUNOSUPPRESSIVE TREATMENT; KIDNEY CALCIFICATION; LEUKOCYTE TRANSFUSION; LIVER ABSCESS; LIVER BIOPSY; LIVER INJURY; LOUDNESS RECRUITMENT; LOW DRUG DOSE; MALE; MEDICAL HISTORY; MYELOABLATIVE CONDITIONING; NETHERLANDS; NITROBLUE TETRAZOLIUM TEST; NUCLEOTIDE SEQUENCE; PATIENT REFERRAL; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOGENE; PULMONARY VALVE STENOSIS; RECURRENT INFECTION; STOMACH TUBE; SWEAT; TREATMENT DURATION; VASCULAR TISSUE; VEIN THROMBOSIS; WEIGHT REDUCTION; WESTERN BLOTTING; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ALLELES; CHILD, PRESCHOOL; GENE DELETION; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; MALE; NADPH OXIDASE; NEUTROPHILS; WILLIAMS SYNDROME;

EID: 84884592722     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.310     Document Type: Article

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