{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T14:58:32Z","timestamp":1779893912802,"version":"3.53.1"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T00:00:00Z","timestamp":1672704000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Very early-onset inflammatory bowel disease (VEO-IBD) is generally defined as onset of IBD at &amp;lt;6 years of age. Up to 20% of VEO-IBD may have a monogenic cause; hence, next-generation sequencing is highly recommended for diagnostic accuracy. There remains a paucity of data on VEO-IBD and the proportion of monogeneic causes in South Asia. We analyzed our tertiary care center experience of monogenic VEO-IBD from Northern India and compared them with nonmonogenic VEO-IBD to find out the factors that differentiate monogenic from nonmonogenic VEO-IBD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>All children (&amp;lt;18 years of age) diagnosed with IBD between January 2010 to July 2021 were analyzed along with the next-generation sequencing data and functional assays when available. Clinical features and outcomes between monogenic and nonmonogenic VEO-IBD were compared.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A total of 200 children with a median age of 15.3 (range, 0.17-17) years, 125 of whom were boys, were diagnosed to have IBD during the study period. VEO-IBD was seen in 48 (24%) children. Monogenic IBD was diagnosed in 15 (31%) children with VEO-IBD and 7.5% of all IBD cases. The causes of monogenic VEO-IBD included disorders of the immune system (including interleukin-10 receptor mutations) in 12 and epithelial barrier dysfunction in 3. Features that differentiated monogenic from nonmonogenic VEO-IBD were neonatal IBD, presence of perianal disease, IBD unclassified, history of consanguinity and sibling death, wasting, and stunting (P &amp;lt; .05). There were 6 deaths.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>One-third of participants were monogenic among Indian children with VEO-IBD, the highest proportion reported to date in the world. Next-generation (either exome or whole genome) sequencing should be recommended in a subset of VEO-IBD with neonatal onset, perianal disease, history of consanguinity and siblings\u2019 death, wasting, stunting, and IBD unclassified phenotype for an early diagnosis and referral to an appropriate center for hematopoietic stem cell transplantation for a better outcome.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ibd\/izac254","type":"journal-article","created":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T15:51:45Z","timestamp":1672761105000},"page":"1572-1578","source":"Crossref","is-referenced-by-count":13,"title":["Higher Prevalence of Monogenic Cause Among Very Early Onset Inflammatory Bowel Disease in Children: Experience From a Tertiary Care Center From Northern India"],"prefix":"10.1093","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5277-4401","authenticated-orcid":false,"given":"Ujjal","family":"Poddar","sequence":"first","affiliation":[{"name":"Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences , Lucknow , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2187-5186","authenticated-orcid":false,"given":"Amita","family":"Aggarwal","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology and Rheumatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences , Lucknow , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishnegowda","family":"Jayalakshmi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences , Lucknow , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moinak Sen","family":"Sarma","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences , Lucknow , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anshu","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences , Lucknow , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5875-2892","authenticated-orcid":false,"given":"Amit","family":"Rawat","sequence":"additional","affiliation":[{"name":"Pediatric Allergy and Immunology Division, Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surender Kumar","family":"Yachha","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences , Lucknow , India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,1,3]]},"reference":[{"issue":"3","key":"2023100317450468900_CIT0001","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.bpg.2004.01.002","article-title":"Specificities of inflammatory bowel disease in childhood","volume":"18","author":"Griffiths","year":"2004","journal-title":"Best Pract Res Clin Gastroenterol."},{"issue":"25","key":"2023100317450468900_CIT0002","doi-asserted-by":"crossref","first-page":"2741","DOI":"10.3748\/wjg.v24.i25.2741","article-title":"Current global trend in the incidence of pediatric-onset inflammatory bowel disease","volume":"24","author":"Sykora","year":"2018","journal-title":"World J 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