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We found that VEOIBD patients carry heterozygous functional hypomorphic variants in components of the NOX2 NADPH oxidase complex. These do not cause overt immunodeficiency, but instead determine susceptibility to VEOIBD. Specific approaches might be developed to treat individual patients based on their genetic variant.
http://www.ncbi.nlm.nih.gov/pubmed/24931457
http://www.ncbi.nlm.nih.gov/pubmed/24931457