P67-phox (NCF2) lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD)

PLoS ONE

Volumn 7, Issue 4, 2012, Pages

  Roesler, Joachim ^a   Segerer, Florian ^b   Morbach, Henner ^b   Kleinert, Stefan ^b   Thieme, Sebastian ^a   Rösen Wolff, Angela ^a   Liese, Johannes G ^b  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; CORTICOSTEROID; CYTOCHROME B558; ITRACONAZOLE; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; RETROVIRUS VECTOR; NEUTROPHIL CYTOSOL FACTOR 67K; PHOSPHOPROTEIN;

ADULT; ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS; ALLERGIC PNEUMONITIS; ARTICLE; ASPERGILLUS; ASPERGILLUS FUMIGATUS; CASE REPORT; CHILD; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; COR PULMONALE; DELAYED DIAGNOSIS; DETERIORATION; DYSPNEA; ECZEMA; EXON; GENE; GRAIN DUST ALLERGY; HOME OXYGEN THERAPY; HOMOZYGOTE; HUMAN; HUMAN CELL; LIVER ABSCESS; LOBECTOMY; LONG TERM SURVIVAL; LUNG ASPERGILLOSIS; LUNG BIOPSY; LUNG MYCOSIS; MALE; MONOCYTE; NCF2 GENE; NEUTROPHIL; PNEUMONIA; PRESCHOOL CHILD; PULMONARY HYPERTENSION; RESPIRATORY FAILURE; RESPIRATORY TRACT ALLERGY; SCHOOL CHILD; SKIN ABSCESS; SPLICING DEFECT; STAPHYLOCOCCUS AUREUS; TONSILLITIS; GENETICS; MIDDLE AGED;

FISTULA;

DELAYED DIAGNOSIS; EXONS; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; MALE; MIDDLE AGED; PHOSPHOPROTEINS;

EID: 84859708074     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0034296     Document Type: Article

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