Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease.

Chronic granulomatous disease (CGD) is caused by defects of NADPH oxidase. The diagnosis of CGD can be made by analysis of NADPH oxidase activity, however, identification of the CGD subgroups is required before performing mutation analysis. The membrane-bound subunits, gp91phox and p22phox, can be quickly analyzed by flow cytometry, unlike the cytosolic components, p47phox and p67phox. We evaluated the feasibility of flow cytometric detection of p47phox and p67phox with specific monoclonal antibodies in two patients with p47phox deficiency and 7 patients with p67phox deficiency. Consistent with previous observations, p47phox and p67phox were expressed in phagocytes and B cells, but not in T or natural killer cells, from normal controls. In contrast, patients with p47phox and p67phox deficiency showed markedly reduced levels of p47phox and p67phox, respectively. These techniques will be useful to rapidly assess the expression of the cytosolic components, p47phox and p67phox, and represents important secondary screening tests for CGD.
AuthorsTaizo Wada, Masahiro Muraoka, Tomoko Toma, Tsuyoshi Imai, Tomonari Shigemura, Kazunaga Agematsu, Kohei Haraguchi, Hiroyuki Moriuchi, Tsutomu Oh-Ishi, Toshiyuki Kitoh, Osamu Ohara, Tomohiro Morio, Akihiro Yachie
JournalJournal of clinical immunology (J Clin Immunol) Vol. 33 Issue 4 Pg. 857-64 (May 2013) ISSN: 1573-2592 [Electronic] Netherlands
PMID23306776 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Phosphoproteins
  • neutrophil cytosol factor 67K
  • NADPH Oxidase
  • neutrophil cytosolic factor 1
  • Adolescent
  • Adult
  • B-Lymphocytes (immunology)
  • Cell Separation
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Cytosol (metabolism)
  • DNA Mutational Analysis
  • Feasibility Studies
  • Female
  • Flow Cytometry (methods)
  • Granulomatous Disease, Chronic (diagnosis, immunology)
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mass Screening
  • Mutation (genetics)
  • NADPH Oxidase (analysis, genetics, metabolism)
  • Phagocytes (immunology)
  • Phosphoproteins (analysis)
  • Young Adult

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