Characterization of functional microbiome and plasma metabolome in patients with chronic granulomatous disease and congenital neutropenia

The importance of the gut microbiota in the maturation of the immune system and the close relationship between gut microbiota and immune system has been well defined. Thus microbiota studies on immune system-related disorders has become an important field of study.There have been very limited studies in the literature focusing on microbiome differences in primary immune deficiencies. In this research we aimed to determine microbiome structure of rare chronic granulomatous disease (CGD) and congenital neutropenia (CN). For this purpose, CGD and CN groups and their siblings who live in the same house were included in the study. Microbiome analyses by 16S rRNA amplicon sequencing, differential fecal metabolomics by (GC-MS) were performed. Fecal secretory IgA and fecal lipocalin were also determined in fecal supernatants due to their close relationship with microbiome-related intestinal inflammation. Moreover, plasma metabolom structure was also determined in patients and controls.