{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhang ZZ"],"funding":["NIH Oxford-Cambridge and Harvard Medical School Medical Scientist Training Program","Intramural Research Program of NIH, National Institute of Allergy and Infectious Diseases","Sanming Project of Medicine in Shenzhen"],"pagination":["e2009217118"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7958356"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["118(10)"],"pubmed_abstract":["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 th"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["Homozygous IL37 mutation associated with infantile inflammatory bowel disease."],"pmcid":["PMC7958356"],"funding_grant_id":["N/A","SZSM201812002"],"pubmed_authors":["Gonzaga-Jauregui C","Ozen A","Zhang ZZ","Karakoc-Aydiner E","Baris S","Lenardo MJ","Sweeney CL","He T","Yao Y","Smith KGC","Zhang Y","Malech HL","Matthews HF","Ertem D","Su HC"],"additional_accession":[]},"is_claimable":false,"name":"Homozygous IL37 mutation associated with infantile inflammatory bowel disease.","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 th","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Mar","modification":"2025-04-19T15:37:21.754Z","creation":"2025-04-19T15:37:21.754Z"},"accession":"S-EPMC7958356","cross_references":{"pubmed":["33674380"],"doi":["10.1073/pnas.2009217118"]}}