Fecal microbiota transplantation before hematopoietic stem cell transplantation in a pediatric case of chronic diarrhea with a FOXP3 mutation

BackgroundImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene, often leading to intractable and life-threatening diarrhea. Fecal microbiota transplantation (FMT), has been regarded in recent years as an available approach reconstruct disrupted gut microbiome successfully used attenuates diarrhea induced different underlying diseases. Therefore, FMT may have curative potential on symptoms enteropathy patients with IPEX syndrome.MethodsPhysical laboratory examinations were performed, clinical data collected. was administered via frozen fecal microbial solution, composition analyzed using 16S rDNA sequencing before after FMT.ResultsThe patient diagnosed detected FOXP3 which identified c.767T > C (p.M256T). He presented recurrent watery respiratory infections birth developed significant failure thrive. Disturbances marked decreased bacterial diversity observed be involved persistent refractory After receiving treatment, responded remission without apparent side effects. His stool output significantly decreased, corresponding increased modification his composition. The finally achieved full recovery hematopoietic stem cell (HSCT).ConclusionOur suggest association between demonstrate alternative therapy for severe unresponsive routine these patients. Immune syndrome. Physical FMT. (HSCT). Our