A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

Blood

Volumn 114, Issue 15, 2009, Pages 3309-3315

  Matute, Juan D ^a   Arias, Andres A ^a   Wright, Nicola A M ^b   Wrobel, Iwona ^b   Waterhouse, Christopher C M ^b   Xing, Jun Li ^a   Marchal, Christophe C ^a   Stull, Natalie D ^a   Lewis, David B ^c   Steele, MacGregor ^b   Kellner, James D ^b   Yu, Weiming ^d   Meroueh, Samy O ^a   Nauseef, William M ^e,f   Dinauer, Mary C ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALGARY   (Canada)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CALGARY   (Canada)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

^f UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; AZATHIOPRINE; CIPROFLOXACIN; FORMYLMETHIONYLLEUCYLPHENYLALANINE; GLUCOCORTICOID; INFLIXIMAB; MESALAZINE; METHOTREXATE; METRONIDAZOLE; OXIDOREDUCTASE; PHORBOL ESTER; PROTEIN P40; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2; SALAZOSULFAPYRIDINE; SUPEROXIDE; CARCINOGEN; NCF4 PROTEIN, HUMAN; PHOSPHATIDYLINOSITOL 3 PHOSPHATE; POLYPHOSPHOINOSITIDE;

ABDOMINAL PAIN; ANUS DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; CLINICAL FEATURE; COLITIS; COLON BIOPSY; ECZEMA; ENDOSCOPY; FEVER; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; ILEOSTOMY; LABORATORY TEST; MALE; MISSENSE MUTATION; NEUTROPHIL; NUCLEOTIDE SEQUENCE; PARENT; PHAGOCYTOSIS; PHAGOSOME; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; SIBLING; STOP CODON; SUBSTITUTION REACTION; WEIGHT REDUCTION; ADULT; AMINO ACID SUBSTITUTION; CHILD; ENZYMOLOGY; FEMALE; GENETICS; METABOLISM; PATHOLOGY; RECESSIVE GENE; TUMOR CELL LINE;

ADULT; AMINO ACID SUBSTITUTION; CARCINOGENS; CELL LINE, TUMOR; CHILD; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GRANULOMATOUS DISEASE, CHRONIC; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; N-FORMYLMETHIONINE LEUCYL-PHENYLALANINE; NADPH OXIDASE; NEUTROPHILS; PHAGOCYTOSIS; PHORBOL ESTERS; PHOSPHATIDYLINOSITOL PHOSPHATES; SUPEROXIDES;

EID: 70350451062     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-07-231498     Document Type: Article

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