Rare duplication or deletion of exons 6, 7 and 8 in cybb leading to x-linked chronic granulomatous disease in two patients from different families

Journal of Clinical Immunology

Volumn 32, Issue 4, 2012, Pages 653-662

  Stasia, Marie José ^a,b   Van Leeuwen, Karin ^c   De Boer, Martin ^c   Martel, Cecile ^b   Mollin, Michele ^b   Thuret, Isabelle ^d   Michel, Gerard ^d   Hanson, Celine ^e   Augustine, Nancy H ^f   Coutton, Charles ^b,g   Satre, Véronique ^b,g   Wittwer, Carl T ^f,h   Hill, Harry ^f,h   Roos, Dirk ^c  

^a LABORATOIRE TIMC IMAG   (France)

^b GRENOBLE UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d TIMONE HOSPITAL   (France)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^g UNIV GRENOBLE ALPES   (France)

^h ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

Author keywords

Chronic granulomatous disease; CYBB gene; Deletion; Duplication; Gp91phox; NADPH oxidase

Indexed keywords

AMPHOTERICIN; CASPOFUNGIN; COTRIMOXAZOLE; GENOMIC DNA; ITRACONAZOLE; LINEZOLID; POSACONAZOLE; PYRROLE DERIVATIVE; RECOMBINANT GAMMA INTERFERON; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2;

ADOLESCENT; ARTICLE; ASPIRATION; BACTERIAL PNEUMONIA; CASE REPORT; CHILD; CHRONIC GRANULOMATOUS DISEASE; COGNITIVE DEFECT; CONTROLLED STUDY; CROSSING OVER; CYBB GENE; EXON; GENE; GENE DELETION; GENE DUPLICATION; HEART FAILURE; HUMAN; HUMAN CELL; INFECTIOUS COMPLICATION; INTRON; KIDNEY FAILURE; LABORATORY TEST; LUNG ASPERGILLOSIS; LYMPHADENITIS; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NOCARDIOSIS; NUCLEOTIDE REPEAT; OSTEOMYELITIS; PHAGOCYTE; PHOTOPHOBIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RENAL REPLACEMENT THERAPY; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; SPLENOMEGALY; STAPHYLOCOCCAL PNEUMONIA; THROMBOCYTOPENIA; VASCULITIC RASH; VESICULAR STOMATITIS; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; CHILD; EXONS; GENE DUPLICATION; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NADPH OXIDASE; SEQUENCE DELETION;

EID: 84863980616     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9667-2     Document Type: Article

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