The following is a summary of “Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease,” published in the December 2023 issue of Allergy & Immunology by Chandrasekaran, et al.

Chronic granulomatous disease (CGD), resulting from defects in nicotinamide adenine dinucleotide phosphate oxidase complex 2 (NOX2), often manifests with inflammatory bowel disease (CGD-IBD). Balancing conventional IBD treatments against infection risks is critical. Investigating the impact of NOX2 defects on the intestinal microbiota could unveil novel treatments for CGD-IBD. For a cross-sectional observational study, researchers sought to identify distinctive microbiome and metabolome signatures capable of distinguishing individuals with CGD and CGD-IBD.

The study included 79 CGD patients, 8 pathogenic variant carriers, and 19 healthy controls at the National Institutes of Health Clinical Center. Profiling the intestinal microbiome through amplicon sequencing and stool metabolome was conducted. Validation occurred in a second cohort of 36 CGD patients recruited through the Primary Immune Deficiency Treatment Consortium.

Patients with CGD exhibited unique profiles in the intestinal microbiome and metabolome compared to healthy individuals. CGD stool samples displayed enrichment for Erysipelatoclostridium spp, Sellimonas spp, and Lachnoclostridium spp. Despite inter-cohort differences in bacterial alpha and beta diversity, several taxa exhibited significant correlations. Additionally, patients with CGD-IBD demonstrated a distinct microbiome and metabolome profile compared to those without CGD-IBD.

Distinctive intestinal microbiome and metabolome signatures successfully differentiated patients with CGD and CGD-IBD. The findings provided potential biomarkers and identified promising therapeutic targets for further investigation.

Reference: jacionline.org/article/S0091-6749(23)01101-6/fulltext