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Homozygous IL37 mutation leads to infantile inflammatory bowel disease

ABSTRACT: Homozygous IL37 mutation leads to infantile inflammatory bowel disease

PROVIDER: PRJNA635708 | ENA |

REPOSITORIES: ENA

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Homozygous IL37 mutation leads to infantile inflammatory bowel disease

Project description:Homozygous IL37 mutation leads to infantile inflammatory bowel disease

| PRJNA635709 | ENA

Homozygous IL37 mutation associated with infantile inflammatory bowel disease.

Project description:Interleukin (IL)-37, an antiinflammatory IL-1 family cytokine, is a key suppressor of innate immunity. IL-37 signaling requires the heterodimeric IL-18R1 and IL-1R8 receptor, which is abundantly expressed in the gastrointestinal tract. Here we report a 4-mo-old male from a consanguineous family with a homozygous loss-of-function IL37 mutation. The patient presented with persistent diarrhea and was found to have infantile inflammatory bowel disease (I-IBD). Patient cells showed increased intracellular IL-37 expression and increased proinflammatory cytokine production. In cell lines, mutant IL-37 was not stably expressed or properly secreted and was thus unable to functionally suppress proinflammatory cytokine expression. Furthermore, induced pluripotent stem cell-derived macrophages from the patient revealed an activated macrophage phenotype, which is more prone to lipopolysaccharide and IL-1β stimulation, resulting in hyperinflammatory tumor necrosis factor production. Insights from this patient will not only shed light on monogenic contributions of I-IBD but may also reveal the significance of the IL-18 and IL-37 axis in colonic homeostasis.

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