Focus on FOCIS: The continuing diagnostic challenge of autosomal recessive chronic granulomatous disease

Clinical Immunology

Volumn 128, Issue 2, 2008, Pages 117-126

  Yu, Grace ^a   Hong, David K ^a   Dionis, Kira Y ^a   Rae, Julie ^a   Heyworth, Paul G ^b   Curnutte, John T ^c   Lewis, David B ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MERCK RESEARCH LABORATORIES   (United States)

^c Kleiner Perkins Caulfield and Byers   (United States)

Author keywords

Burkholderia cepacia; Case Report; Chronic granulomatous disease; Dihydrorhodamine; Federation of Clinical Immunology Societies; Flow cytometry; FOCIS Centers of Excellence; Hypomorphic mutation; NCF 2 gene; p67 phagocyte oxidase

Indexed keywords

AMOXICILLIN PLUS CLAVULANIC ACID; COTRIMOXAZOLE; DIHYDRORHODAMINE 123;

ANAMNESIS; AUTOSOMAL RECESSIVE INHERITANCE; BURKHOLDERIA CEPACIA; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; FEMALE; FLOW CYTOMETRY; GENE MUTATION; HUMAN; LYMPHADENITIS; NEUTROPHIL; PRIORITY JOURNAL; SCHOOL CHILD; SHORT SURVEY;

BURKHOLDERIA CEPACIA; BURKHOLDERIA INFECTIONS; CHILD; CHROMOSOME ABERRATIONS; FEMALE; GENES, RECESSIVE; GENOTYPE; GRANULOMATOUS DISEASE, CHRONIC; HOMOZYGOTE; HUMANS; MUTATION; NADPH OXIDASE; NEUTROPHILS; PHOSPHOPROTEINS; RESPIRATORY BURST; STAINING AND LABELING;

EID: 46749119388     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2008.05.008     Document Type: Short Survey

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