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CDiReC - Chronic Granulomatous Disease (CGD) Diagnosis and Research Center


CDiReC : Centre Diagnostic et Recherche sur la CGD (Granulomatose Septique Chronique)

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Diagnosis Staff
Director: Marie José Stasia, mjstasia(at)chu-grenoble(dot)fr
Praticien agréé, article L. 1131-3

Technical:
Cécile Martel, technician
Michèle Mollin, technician
Sylvain Beaumel, technician

Secretary: Lila Laval

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CGD DIAGNOSIS LABORATORY

CHU Grenoble

Département Biologie et Pathologie de la Cellule/Pôle Biologie

Laboratoire agréé pour le diagnostic de la CGD, Arrêté numero 08-333, 7 Août 2008


Opening time:
8 H to 17 H
Telephone: 00-33-476765483
Fax: 00-33-476765608

PROCESS OF THE BIOLOGICAL DIAGNOSIS OF CGD

Functional

NADPH oxidase is the missing enzyme in CGD. From total blood neutrophils can be purified and the NADPH oxidase activity can be measured with different methods in theses cells after activation:

  • the NitroBlue-Tetrazolium (NBT) reduction test on slide
  • The superoxide production by visible spectrophotometry
  • The Reactive oxygen species (ROS) production by flux cytometry, fluorimetry, chemiluminescence

NBT test

Biochemical

western_blot As soon as the NADPH oxidase activity defect is observed, then the finding of the missing protein of the NADPH oxidase complex (gp91phox or Nox2, p22phox, p67phox, p47phox) is started. This is made by westernblot analysis with specific antibodies directed against the proteins of the NADPH oxidase complex.

Genetic

The mutation responsible for the absence of the defective protein of the NADPH oxidase complex is checked in one of the corresponding gene (CYBB, CYBA, NCF1, and NCF2).



  Directeur de publication:  Marie-José Stasia   Webmaster:   Marie-Claire Dagher  Last update:  February, 25, 2009