Research & Literature

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Li Q, Lee CH, Peters LA, et al.

Gastroenterology 2016; (150(5)):1196-1207 doi:10.1053/j.gastro.2016.01.031.

IL-10 and IL-10 Receptor Mutations in Very Early Onset Inflammatory Bowel Disease.

Zhu L, Shi T, Zhong C, et al.

Gastroenterology research 2017; (10(2)):65-69 doi:10.14740/gr740w.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, et al.

Blood 2017; (130(12)):1456-1467 doi:10.1182/blood-2017-03-771600.

Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience.

Angelino G, De Angelis P, Faraci S, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2017; (28(8)):801-809 doi:10.1111/pai.12814.

Phenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China.

Ye Z, Zhou Y, Huang Y, et al.

Inflammatory bowel diseases 2017; (23(12)):2154-2164 doi:10.1097/MIB.0000000000001269.

Umbilical Cord Blood Transplantation Corrects Very Early-Onset Inflammatory Bowel Disease in Chinese Patients With IL10RA-Associated Immune Deficiency.

Peng K, Qian X, Huang Z, et al.

Inflammatory bowel diseases 2018; (24(7)):1416-1427 doi:10.1093/ibd/izy028.

Neonatal Presentation of Unremitting Inflammatory Bowel Disease.

Ebrahimi S, Khademi G, Jafari SA, et al.

Iranian journal of medical sciences 2018; (43(3)):328-331.

[Interleukin-10 receptor gene mutations induced very early onset inflammatory bowel disease in 6 infants].

Wang FP, Ma X, Zhu D, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(10)):753-758 doi:10.3760/cma.j.issn.0578-1310.2018.10.007.

Distinct Histopathological Features at Diagnosis of Very Early Onset Inflammatory Bowel Disease.

Conrad MA, Carreon CK, Dawany N, et al.

Journal of Crohn's & colitis 2019; (13(5)):615-625 doi:10.1093/ecco-jcc/jjy212.

European Society of Paediatric Radiology abdominal imaging task force: statement on imaging in very early onset inflammatory bowel disease.

Watson TA, Petit P, Augdal TA, et al.

Pediatric radiology 2019; (49(6)):841-848 doi:10.1007/s00247-019-04375-8.

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.

Kim YE, Ki CS, Jang MA

Annals of laboratory medicine 2019; (39(5)):421-429 doi:10.3343/alm.2019.39.5.421.

Efficacy and safety of infliximab in very early onset inflammatory bowel disease: a national comparative retrospective study.

Bramuzzo M, Arrigo S, Romano C, et al.

United European gastroenterology journal 2019; (7(6)):759-766 doi:10.1177/2050640619847592.

Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience.

Lega S, Pin A, Arrigo S, et al.

Inflammatory bowel diseases 2020; (26(5)):720-727 doi:10.1093/ibd/izz178.

Outcomes and Strategies to Support a Treat-to-target Approach in Inflammatory Bowel Disease: A Systematic Review.

Colombel JF, D'haens G, Lee WJ, et al.

Journal of Crohn's & colitis 2020; (14(2)):254-266 doi:10.1093/ecco-jcc/jjz131.

The Unique Disease Course of Children with Very Early onset-Inflammatory Bowel Disease.

Kelsen JR, Conrad MA, Dawany N, et al.

Inflammatory bowel diseases 2020; (26(6)):909-918 doi:10.1093/ibd/izz214.

North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease.

Kelsen JR, Sullivan KE, Rabizadeh S, et al.

Journal of pediatric gastroenterology and nutrition 2020; (70(3)):389-403 doi:10.1097/MPG.0000000000002567.

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.

Ashton JJ, Mossotto E, Stafford IS, et al.

Clinical and translational gastroenterology 2020; (11(2)):e00129 doi:10.14309/ctg.0000000000000129.

Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists.

Arai K

Pediatric gastroenterology, hepatology & nutrition 2020; (23(5)):411-422 doi:10.5223/pghn.2020.23.5.411.

Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition.

Uhlig HH, Charbit-Henrion F, Kotlarz D, et al.

Journal of pediatric gastroenterology and nutrition 2021; (72(3)):456-473 doi:10.1097/MPG.0000000000003017.

Stepwise ABC system for classification of any type of genetic variant.

Houge G, Laner A, Cirak S, et al.

European journal of human genetics : EJHG 2022; (30(2)):150-159 doi:10.1038/s41431-021-00903-z.

Pediatric Global Health in Children with Very Early-Onset Inflammatory Bowel Disease.

Holbein CE, Plevinsky J, Patel T, et al.

Journal of pediatric psychology 2021; (46(7)):747-756 doi:10.1093/jpepsy/jsab035.

Pattern-based Histologic Approach in Very Early Onset IBD: Main Features and Differential Diagnosis.

Parente P, Mastracci L, Vanoli A, et al.

Advances in anatomic pathology 2022; (29(2)):71-80 doi:10.1097/PAP.0000000000000323.

Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.

Zouk H, Yu W, Oza A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(2)):454-462 doi:10.1016/j.gim.2021.10.010.

Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.

Arbustini E, Behr ER, Carrier L, et al.

European heart journal 2022; (43(20)):1901-1916 doi:10.1093/eurheartj/ehab895.

Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.

Collen LV, Kim DY, Field M, et al.

Journal of Crohn's & colitis 2022; (16(9)):1380-1396 doi:10.1093/ecco-jcc/jjac045.

Clinical features of very early-onset inflammatory bowel disease in Japan: a retrospective single-center study.

Usami M, Takeuchi I, Kyodo R, et al.

Intestinal research 2022; (20(4)):475-481 doi:10.5217/ir.2021.00142.

Monogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via immunosuppressive drug therapy.

Fujikawa H, Shimizu H, Nambu R, et al.

Clinical immunology (Orlando, Fla.) 2023; (246()):109203 doi:10.1016/j.clim.2022.109203.

Higher Prevalence of Monogenic Cause Among Very Early Onset Inflammatory Bowel Disease in Children: Experience From a Tertiary Care Center From Northern India.

Poddar U, Aggarwal A, Jayalakshmi K, et al.

Inflammatory bowel diseases 2023; (29(10)):1572-1578 doi:10.1093/ibd/izac254.

Expert consensus on vaccination in patients with inflammatory bowel disease in Japan.

Ishige T, Shimizu T, Watanabe K, et al.

Journal of gastroenterology 2023; (58(2)):135-157 doi:10.1007/s00535-022-01953-w.

Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition.

Kammermeier J, Lamb CA, Jones KDJ, et al.

The lancet. Gastroenterology & hepatology 2023; (8(3)):271-286 doi:10.1016/S2468-1253(22)00337-5.

Clinical Course of Very Early-Onset Inflammatory Bowel Disease.

Cucinotta U, Arrigo S, Dipasquale V, et al.

Journal of pediatric gastroenterology and nutrition 2023; (76(5)):590-595 doi:10.1097/MPG.0000000000003730.

Discovery of a novel RIPK2 inhibitor for the treatment of inflammatory bowel disease.

Lai Y, Wang X, Sun X, et al.

Biochemical pharmacology 2023; (214()):115647 doi:10.1016/j.bcp.2023.115647.

Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards.

Uhlig HH, Booth C, Cho J, et al.

Nature reviews. Gastroenterology & hepatology 2023; (20(12)):810-828 doi:10.1038/s41575-023-00838-4.

Risk Factors of Low Bone Mineral Density in Newly Diagnosed Pediatric Inflammatory Bowel Disease.

Ahn MB, Yoo IH

Nutrients 2023; (15(24)) doi:10.3390/nu15245048.

Very Early Onset of Fistulizing Inflammatory Bowel Disease With RIPK1 Mutation: A Case Report.

Bsharat RK, AbuBshara ME, Karajeh IH, et al.

Cureus 2024; (16(3)):e55708 doi:10.7759/cureus.55708.

Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.

Eslamian G, Jamee M, Momen T, et al.

Clinical and experimental immunology 2024; (217(1)):1-11 doi:10.1093/cei/uxae037.

Infantile and Very Early Onset Inflammatory Bowel Disease: A Multicenter Study.

Guz-Mark A, Aloi M, Scarallo L, et al.

Pediatrics 2024; (154(2)) doi:10.1542/peds.2023-064546.

Effectiveness and Safety of Adalimumab in Patients With Very Early-Onset Inflammatory Bowel Disease: A Retrospective Study on Behalf of the Porto Inflammatory Bowel Disease Working Group of European Society for Pediatric Gastroenterology Hepatology and Nutrition.

Weintraub Y, Collen LV, Hussey S, et al.

Inflammatory bowel diseases 2025; (31(8)):2184-2194 doi:10.1093/ibd/izae302.

Red flags to suspect inborn errors of immunity in patients with autoimmune diseases

Vélez N, De Ávila J, Cortés J, et al.

Biomedica : revista del Instituto Nacional de Salud 2024; (44(Sp. 2)):236-262 doi:10.7705/biomedica.7561.

Process of empowerment in mothers of children with very-early-onset inflammatory bowel disease: a qualitative study.

Yokoo M, Nomura S, Fukui S, et al.

Intestinal research 2026; (24(1)):151-163 doi:10.5217/ir.2024.00048.

Histologic alterations are common in Monogenic Disease patients with 'healthy' endoscopy: Results from a GIPAD-GIPPI multicenter study.

Ferro J, Francalanci P, Angerilli V, et al.

Human pathology 2025; (157()):105763 doi:10.1016/j.humpath.2025.105763.

Outcomes of Allogeneic Hematopoietic Stem Cell Transplant in Monogenic Inflammatory Bowel Disease.

Baccarella A, Patel T, Conrad MA, et al.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2025; (23(12)):2242-2252.e4 doi:10.1016/j.cgh.2025.03.018.

Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools.

Chen YA, Yuan TH, Huang JH, et al.

Human genomics 2025; (19(1)):70 doi:10.1186/s40246-025-00778-x.

From Genes to Gut: Understanding Diagnosis and Treatment in Very Early Onset Inflammatory Bowel Disease.

Konys C, Usman Y, Runde J

Pediatric annals 2025; (54(8)):e280-e285 doi:10.3928/19382359-20250612-04.

Surgical management of very early onset inflammatory bowel disease.

Ullrich SJ, Le-Nguyen A, Holder M, et al.

Journal of pediatric surgery 2026; (61(1)):162552 doi:10.1016/j.jpedsurg.2025.162552.

Asian-Pacific perspectives on the management of very early-onset inflammatory bowel disease.

Takeuchi I, Arai K, Tanpowpong P, et al.

Intestinal research 2025; (23(4)):405-429 doi:10.5217/ir.2025.00082.

Challenges in the Management of Inflammatory Bowel Disease in Children: A Narrative Review.

Hathagoda W, Rajindrajith S, Niriella MA

Clinical and experimental gastroenterology 2025; (18()):259-275 doi:10.2147/CEG.S557464.

Real-world outcomes of ustekinumab, vedolizumab, and tumor necrosis factor inhibitors in very-early-onset inflammatory bowel disease: a multi-center cohort study.

Nambu R, Iwama I, Takeuchi I, et al.

Journal of gastroenterology 2026; (61(4)):398-409 doi:10.1007/s00535-025-02334-9.

Targeted therapies and their outcomes in monogenic very early onset inflammatory bowel disease: a systematic review.

Abhari AP, Rezvanian P, Sohrabi E, et al.

BMC gastroenterology 2026; (26(1)):113 doi:10.1186/s12876-025-04592-6.

Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study.

Ito N, Kudo T, Jimbo K, et al.

Intestinal research 2026; doi:10.5217/ir.2025.00203.

Clinical Phenotypes and Genetic Findings in Very-Early-Onset Inflammatory Bowel Disease: A Vietnamese Pediatric Cohort Study.

Nguyen MC, Nguyen TVH, Nguyen L, et al.

Children (Basel, Switzerland) 2026; (13(5)) doi:10.3390/children13050666.

Intersection Between Systemic Autoimmune Diseases, Primary Immunodeficiency and Cancer: a Field in its Infancy.

Sánchez-Ramón S, Ramos-Lisbona AI, Karim MY

Journal of clinical immunology 2026; (46(1)).

Salmonella Typhimurium infection complicating very early-onset inflammatory bowel disease presenting with Pseudo-intussusception: a case report.

Liu Q, Yang L, Sun X, et al.

Frontiers in pediatrics 2026; (14()):1885979 doi:10.3389/fped.2026.1885979.

A therapeutic atlas of monogenic inflammatory bowel disease.

Yeh PJ, Charlesworth JEG, Taylor H, et al.

Journal of Crohn's & colitis 2026; (20(9)) doi:10.1093/ecco-jcc/jjag124.