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Chronic granulomatous disease mutations and the PX domain

Nature Cell Biology volume 4, page E110 (2002)Cite this article

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To the Editor

Recent reports have described the interaction of specific phosphoinositides (PIs) with the phox homology (PX) domain of several proteins, including the phagocyte NADPH oxidase components p47-phox and p40-phox, after which the module was named1,2,3. These papers, and a subsequent Nature Cell Biology News and Views article4 referred to a study in which we identified rare mutations in the p47-phox gene of a small group of patients with chronic granulomatous disease (CGD)5. In CGD, superoxide generation by NADPH oxidase is absent or severely diminished. In two compound heterozygous patients, a point mutation on one allele (G125A) predicted the amino acid change R42Q.

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References

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Authors and Affiliations

  1. Department of Molecular and Experimental Medicine MEM-241, The Scripps Research Institute, La Jolla, 92037, CA, USA

    Paul G. Heyworth & Andrew R. Cross

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  1. Paul G. Heyworth
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  2. Andrew R. Cross
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Heyworth, P., Cross, A. Chronic granulomatous disease mutations and the PX domain. Nat Cell Biol 4, E110 (2002). https://doi.org/10.1038/ncb0502-e110a

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