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CGD Society funding supported research on a new tool to speed up diagnosis of p47phox CGD

Researchers at the University Children’s Hospital Zurich, Switzerland have developed a promising new low cost and fast method of diagnosing p47phox CGD.  The work, published in the journal Molecular Therapy: Methods and Clinical Development, was in part funded with a grant in 2016 from the CGD Society.

In Western countries, p47phox CGD is the second most frequent form of CGD with more than 94% having a disease-causing deletion in the neutrophil cytosolic factor 1 (NCF1) gene.  Diagnosis of p47phox deficiency is complicated by the presence of two NCF-1 pseudogenes, segments of DNA that are related to the real working gene, as it requires the test being able to distinguish between the disease-causing deletion and its pseudogenes.

The test can be done in a single day and can robustly identify p47phox CGD patients and is an attractive alternative to the existing methods used in CGD diagnostics in terms of what equipment is needed and its cost. While promising results have been achieved by the scientists so far, further work will be required to develop a marketable product.


Novel Diagnostic Tool for p47 phox -Deficient Chronic Granulomatous Disease Patient and Carrier Detection.  Wrona D, Siler U, Reichenbach J.  Mol Ther Methods Clin Dev. 2019 Feb 10;13:274-278. doi: 10.1016/j.omtm.2019.02.001. eCollection 2019 Jun 14.

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