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Journal articles on the topic 'Monogenic IBD'

Author: Grafiati

Published: 1 April 2023

Last updated: 31 July 2025

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1

Nambu, R., N. Warner, D. J. Mulder, and A. Muise. "A26 A SYSTEMTIC REVIEW OF MONOGENIC INFLAMMATORY BOWEL DISEASE: CLINICAL PHENOTYPE AND GENOTYPE." Journal of the Canadian Association of Gastroenterology 4, Supplement_1 (2021): 145–47. http://dx.doi.org/10.1093/jcag/gwab002.025.

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Abstract Background Advances in genomic technologies have led to an increase in reports of monogenic inflammatory bowel disease (IBD). The majority of the studies on monogenic IBD have focused only on young children aged &lt;6 years. There are no detailed reports containing a comprehensive picture of monogenic IBD with specific numbers on the clinical features, genetic profiles and disease course. Since each gene-specific cause of monogenic IBD is rare, it is difficult to collect cases in a single study even with international cohort studies. Aims To elucidate a comprehensive picture of mo

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2

Jezernik, Gregor, Dušanka Mičetić-Turk, and Uroš Potočnik. "Molecular Genetic Architecture of Monogenic Pediatric IBD Differs from Complex Pediatric and Adult IBD." Journal of Personalized Medicine 10, no. 4 (2020): 243. http://dx.doi.org/10.3390/jpm10040243.

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Inflammatory bowel disease (IBD) manifests as a complex disease resulting from gene–environment interactions or as a monogenic disease resulting from deleterious mutations. While monogenic IBD is predominantly pediatric, only one-quarter of complex IBD is pediatric. In this study, we were the first to systematically compare genetic architecture between monogenic and complex pediatric and adult IBD on genetic and molecular pathway levels. Genes reported as causal for monogenic pediatric IBD and related syndromes and as risk factors for pediatric and adult complex IBD were analyzed using CytoSca

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3

Ouahed, Jodie, Elizabeth Spencer, Daniel Kotlarz, et al. "Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies." Inflammatory Bowel Diseases 26, no. 6 (2019): 820–42. http://dx.doi.org/10.1093/ibd/izz259.

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Abstract Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before 6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some distinct characteristics such as a higher likelihood of an underlying monogenic etiology or primary immune deficiency. In addition, patients with VEO-IBD have a higher incidence of inflammatory bowel disease unclassified (IBD-U) as compared with older-onset IBD. In some populations, VEO-IBD represents the age group with the fastest growing incidence of IBD. There are contradicting reports on whether VEO-IBD is mo

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Lega, Sara, Alessia Pin, Serena Arrigo, et al. "Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience." Inflammatory Bowel Diseases 26, no. 5 (2019): 720–27. http://dx.doi.org/10.1093/ibd/izz178.

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Abstract Background and aims Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients’ management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Methods Information of patients with VEO-IBD and early onset IBD with severe/atypical phenotypes (EO-IBD s/a) managed between 2008–2017 who underwent

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5

Levine, Anne E., Dominique Mark, Laila Smith, Hengqi B. Zheng, and David L. Suskind. "Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases." Pharmaceutics 15, no. 3 (2023): 969. http://dx.doi.org/10.3390/pharmaceutics15030969.

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Inflammatory bowel disease (IBD) is treated with a variety of immunomodulating and immunosuppressive therapies; however, for the majority of cases, these therapies are not targeted for specific disease phenotypes. Monogenic IBD with causative genetic defect is the exception and represents a disease cohort where precision therapeutics can be applied. With the advent of rapid genetic sequencing platforms, these monogenic immunodeficiencies that cause inflammatory bowel disease are increasingly being identified. This subpopulation of IBD called very early onset inflammatory bowel disease (VEO-IBD

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Xiao, F., H. Liu, J. Xu, Y. Shen, and J. Liao. "P186 Comparative Analysis of Clinical Phenotypes and Pathogenic Features between Late-Onset and Infantile-Onset Monogenic Inflammatory Bowel Disease." Journal of Crohn's and Colitis 18, Supplement_1 (2024): i495. http://dx.doi.org/10.1093/ecco-jcc/jjad212.0316.

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Abstract Background Previous research on monogenic IBD (m-IBD) has mainly focused on very-early-onset IBD (VEO-IBD) and Montreal classification A1 type IBD patients. In non-A1 type (age &gt; 16y) late-onset IBD patients, some individuals also exhibit IBD manifestations due to monogenic mutations. Here we systematically review the literature, using infantile-onset monogenic IBD patients as a control, to explore the genetic characteristics, clinical presentations, and treatment strategies of late-onset monogenic IBD. Methods Based on the onset age of IBD, m-IBD was categorized into infantile

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Heidari, Alireza. "Systematic Reviews and Meta-Analyses in Application of Artificial Intelligence (AI) to Clinical Gastroenterology and Hepatology Practice." New Medical Innovations and Research 4, no. 9 (2023): 01–08. https://doi.org/10.31579/2767-7370/079.

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Related to the look at of tiny chemical commands inside cells remedy allows the identity of patients with uncommon or extremely-rare monogenic forms of insulting/swelling bowel disease (IBD) and supports medicine-primarily based decision making. patients with monogenic IBD regularly revel in very early beginning of remedy-stubborn and disobedient/tough to remedy ailment, with complicated extraintestinal disease much like immunodeficiency. for the reason that extra than a hundred monogenic diseases/problems can present with IBD, new (associated with tiny chemical meeting commands internal of re

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Shadrin, O. G., T. L. Marushko, A. P. Volokha, R. V. Marushko, R. V. Mostovenko, and M. G. Goryanska. "Challenges in diagnosing IBD-like intestinal lesions in young children." Modern pediatrics. Ukraine, no. 2(146) (March 28, 2025): 147–56. https://doi.org/10.15574/sp.2025.2(146).147156.

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Among inflammatory bowel diseases (IBD) with very early onset, particularly in children under two years of age (Infantile Form IBD), monogenic IBD-like disorders account for a significant proportion — up to 35%. Most of these conditions are associated with congenital immunodeficiencies. Our research also suggests a possible link between IBD-like intestinal mucosal lesions and certain congenital gastrointestinal malformations (such as neuropathy and myopathy) as well as severe viral infections, including COVID-19. Aim - using the example of a clinical case, to show the phenotypic features, diff

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Leung, Gabriella, and Aleixo M. Muise. "Monogenic Intestinal Epithelium Defects and the Development of Inflammatory Bowel Disease." Physiology 33, no. 5 (2018): 360–69. http://dx.doi.org/10.1152/physiol.00020.2018.

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The incidence of inflammatory bowel disease (IBD) is increasing worldwide, most notably in young children. The development of disease is a combination of several factors, including genetics, environment, the microbiota, and immune system. Recently, next-generation sequencing has allowed for the identification of novel genetic causes for intestinal disease, including pediatric inflammatory bowel disease (IBD). These IBD genes can generally be grouped into genes causing either primary immunodeficiency or intestinal epithelial defects (the focus of this review). Most of these genes have been func

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Demirtas Guner, Duygu, Hacer Neslihan Bildik, Hulya Demir, et al. "Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications." Children 12, no. 5 (2025): 536. https://doi.org/10.3390/children12050536.

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Background/Objectives: This study aims to identify genetic variants associated with early-onset inflammatory bowel disease (IBD) and to improve diagnostic and therapeutic approaches. In selected monogenic IBD cases, treatment included colchicine, interleukin-1 inhibitors, and hematopoietic stem cell transplantation. Methods: This study included patients with early-onset IBD, defined as IBD diagnosed before the age of 10, who were under follow-up at the Department of Pediatric Gastroenterology, Hacettepe University, and agreed to participate between December 2018 and April 2021. Whole-exome seq

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Andrews, Alicia R., and Juan Putra. "Special Considerations in Pediatric Inflammatory Bowel Disease Pathology." Diagnostics 15, no. 7 (2025): 831. https://doi.org/10.3390/diagnostics15070831.

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Inflammatory bowel disease (IBD) in the pediatric population presents distinct characteristics compared to adult cases. Pathology plays a critical role in its diagnosis, and this review underscores key considerations in the pathologic evaluation of pediatric IBD. Recognizing inflammatory patterns in the upper gastrointestinal tract can improve disease classification and aid in diagnosing IBD in certain scenarios, such as isolated upper gastrointestinal or small bowel involvement. Additionally, familiarity with distinctive subtypes, including IBD associated with primary sclerosing cholangitis a

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Khavkin, Anatoly I., Anastasiya A. Permyakova, Mariya O. Tsepilova, et al. "Modern View on Very Early Onset and Early Onset Inflammatory Bowel Diseases in Children." Current Pediatrics 23, no. 3 (2024): 145–51. http://dx.doi.org/10.15690/vsp.v23i3.2768.

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Nowadays, an urgent problem of pediatric gastroenterology is the study of inflammatory bowel diseases with very early onset (VEO-IBD), which have unique genetic, clinical, immunological, morphological, and laboratory sings. Early VEO-IBD is usually considered as monogenic disease, especially in combination with congenital immune defects, which leads to difficulties in diagnosis and management this pathology. Despite this, systematization of information about this group of nosological forms of IBD is practically not carried out. This article presents a review of the available information on eti

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Charbit-Henrion, Fabienne, Marianna Parlato, Sylvain Hanein, et al. "Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study." Journal of Crohn's and Colitis 12, no. 9 (2018): 1104–12. http://dx.doi.org/10.1093/ecco-jcc/jjy068.

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Abstract Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic

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Gramaglia, S. M. C., U. Cucinotta, V. Dipasquale, A. Serena, P. Gandullia, and C. Romano. "P300 Very early onset Inflammatory Bowel Diseases: Review of the Genoa-Messina joint clinical experience. Therapeutic approach: Part II." Journal of Crohn's and Colitis 16, Supplement_1 (2022): i330. http://dx.doi.org/10.1093/ecco-jcc/jjab232.427.

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Abstract Background Pediatric inflammatory bowel diseases (pIBD) have specific phenotypes compared to Inflammatory Bowel Diseases (IBD) in adults. The Very Early Onset-IBD (VEO-IBD) is considered a diagnosis of IBD in children before age, 6 years old with, 15% of prevalence. Methods The objective of this study was to compare the clinical and endoscopic features of VEO-IBD compared to pediatric IBD (diagnosis &gt;, 6 years old) also in terms of natural history and response to treatment. The VEO patients followed at the IBD-Centers of Messina and Gaslini were enrolled retrospectively. We com

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Collen, Lauren, Michael Field, Alal Eran, et al. "BULK RNA-SEQUENCING OF BLOOD INFORMS MOLECULAR DIAGNOSES IN VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE." Inflammatory Bowel Diseases 29, Supplement_1 (2023): S56. http://dx.doi.org/10.1093/ibd/izac247.108.

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Abstract BACKGROUND Very early onset inflammatory bowel disease (VEOIBD) is defined as disease onset prior to age 6. VEOIBD is monogenic in &gt;5% of cases; however, in the remaining cases, molecular basis of disease is unknown. We aimed to utilize bulk RNA-seq of blood to 1) define transcriptional signatures in established monogenic IBD and 2) to inform novel molecular diagnoses. METHODS We sequenced the transcriptomes of 115 whole blood samples, comprising patients with VEOIBD of a known monogenic cause (n=35), VEOIBD without a known monogenic cause (n=70), and healthy controls (n=10). W

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El-Matary, Wael, Matthew W. Carroll, Colette Deslandres, et al. "The 2023 Impact of Inflammatory Bowel Disease in Canada: Special Populations—Children and Adolescents with IBD." Journal of the Canadian Association of Gastroenterology 6, Supplement_2 (2023): S35—S44. http://dx.doi.org/10.1093/jcag/gwad016.

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Abstract Rates of inflammatory bowel disease (IBD) in Canadian children and adolescents are among the highest in the world, and the incidence is rising most rapidly in children under five years of age. These young children may have either a typical form of IBD with multi-factorial aetiology, or they may have a monogenic form. Despite the growing number of children in Canada living with this important chronic disease, there are few available medical therapies approved by Health Canada due to the omission of children from most clinical trials of newly developed biologics. As a result, off-label

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Bao, Michelle, Meltem Ece Kars, David Zhang, et al. "25: MULTI-ANCESTRY PHEWAS OF MONOGENIC IBD GENES REVEALS ANCESTRY-SPECIFIC EFFECTS IN IBD RISK AND NON-IBD PHENOTYPES." Gastroenterology 169, no. 1 (2025): S—8—S—9. https://doi.org/10.1016/s0016-5085(25)00986-2.

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Bugda Gwilt, Katlynn, and Jay R. Thiagarajah. "Overcoming problematic growth phenotypes in organoids from patients with monogenic GI disease." PLOS ONE 19, no. 11 (2024): e0309072. http://dx.doi.org/10.1371/journal.pone.0309072.

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Patient-derived organoids provide a unique model system to explore disease-causing mutations ex vivo. By using organoids from duodenal or colonic biopsies of pediatric patients with intestinal epithelial disorders, we can directly assay the patient cells to tailor treatment to their unique disease state. The advent of organoid technology from patients with severe intestinal disorders such as Congenital Diarrhea Enteropathies (CoDE) and Very-Early-Onset Inflammatory Bowel Disease (VEO-IBD) has allowed for rapid advances in the understanding of and the treatment of these monogenic disorders. Sti

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Alsaedi, K. S., A. Sant'Anna, and N. Ahmed. "A224 CHARACTERIZATION OF VERY-EARLY-ONSET INFLAMMATORY BOWEL DISEASE IN CHILDREN ampersand:003C6 YEARS OF AGE: A SINGLE CENTER EXPERIENCE." Journal of the Canadian Association of Gastroenterology 7, Supplement_1 (2024): 178–79. http://dx.doi.org/10.1093/jcag/gwad061.224.

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Abstract Background Very-early-onset inflammatory bowel disease (VEO-IBD), diagnosed before the age of six years old, presents a distinct subtype of pediatric inflammatory bowel disease (IBD). This chronic inflammatory condition is believed to result from an abnormal immune response triggered by environmental factors including the gut microbiota, in genetically susceptible individuals. Aims This study aims to analyze the clinical characteristics and management of VEO-IBD patients in a tertiary medical center, evaluating disease presentation, localization and treatment strategies. Methods A ret

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Gramaglia, S. M. C., U. Cucinotta, V. Dipasquale, S. Arrigo, P. Gandullia, and C. Romano. "P263 Very early onset Inflammatory Bowel Diseases: Review of the Genoa-Messina joint clinical experience. Clinical history: Part I." Journal of Crohn's and Colitis 16, Supplement_1 (2022): i304. http://dx.doi.org/10.1093/ecco-jcc/jjab232.390.

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Abstract Background Pediatric inflammatory bowel diseases (pIBD) have specific phenotypes compared to Inflammatory Bowel Diseases (IBD) in adults. The Very Early Onset-IBD (VEO-IBD) is considered a diagnosis of IBD in children before age 6 years old with 15% of prevalence. Methods The objective of this study was to compare the clinical and endoscopic features of VEO-IBD compared to pediatric IBD (diagnosis &gt; 6 years old) also in terms of natural history and response to treatment. The VEO patients followed at the IBD-Centers of Messina and Gaslini were enrolled retrospectively. We compar

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Magg, Thomas, Anna Shcherbina, Duran Arslan, et al. "CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease." Inflammatory Bowel Diseases 25, no. 11 (2019): 1788–95. http://dx.doi.org/10.1093/ibd/izz103.

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Abstract Background Children with very early onset inflammatory bowel diseases (VEO-IBD) often have a refractory and severe disease course. A significant number of described VEO-IBD-causing monogenic disorders can be attributed to defects in immune-related genes. The diagnosis of the underlying primary immunodeficiency (PID) often has critical implications for the treatment of patients with IBD-like phenotypes. Methods To identify the molecular etiology in 5 patients from 3 unrelated kindred with IBD-like symptoms, we conducted whole exome sequencing. Immune workup confirmed an underlying PID.

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Shumilov, P. V., and A. E. Shchigoleva. "Features of very early-onset inflammatory bowel disease: the experience of the Federal Pediatric Center." Voprosy detskoj dietologii 19, no. 3 (2021): 5–13. http://dx.doi.org/10.20953/1727-5784-2021-3-5-13.

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Objective. To clarify the incidence of monogenic IBD-like diseases and the features of clinical course and response to therapy of major types of inflammatory bowel diseases (IBD) among children under the age of 6 with manifestation of the disease. Patients and methods. The study included 135 children under the age of 6 with manifestation of IBD; in the comparison group, there were 128 children after the age of 6 with manifestation of IBD (97 children with ulcerative colitis (UC) and 31 children with Crohn’s disease (CD)) who were observed for at least 1 year. All children underwent a standard

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Kastsiukevich, L. I., O. N. Romanova, A. P. Mikhalenko, et al. "CONGENITAL DEFECTS OF THE IMMUNE SYSTEM AS A MANIFESTATION OF MONOGENIC INFLAMMATORY BOWEL DISEASE IN CHILDREN." Hepatology and Gastroenterology 8, no. 2 (2024): 96–104. https://doi.org/10.25298/2616-5546-2024-8-2-96-104.

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Background. Currently, monogenic inflammatory bowel disease-like (IBD) pathologies such as congenital immunity defects, genetic epithelial barrier defects and others are becoming increasingly relevant. Objective. To analyze genetic defects associated with IBD-like immunopathology. Material and methods. The study included 46 patients with IBD manifestations aged 18 years or younger, who underwent whole-exome sequencing using the NGS method. All calculations were performed using the R statistical package, version 4.1. Results. There were identified 11 (23,9%) patients with gene mutations indicat

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Schwärzler, J. P., A. Zollner, T. Dolejsi, et al. "P302 Precision medicine for a case with monogenic inflammatory bowel disease." Journal of Crohn's and Colitis 17, Supplement_1 (2023): i446—i448. http://dx.doi.org/10.1093/ecco-jcc/jjac190.0432.

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Abstract Background Here we report the case of a 33-year-old patient suffering from recurring infections since childhood, and Crohn’s disease (CD)-like inflammation in the ileum and colon for 5 years. The patient was transferred to our hospital due to severe pneumonia with Pseudomonas aeruginosa and Mycobacterium chimaera infection, recurrent fever, bronchiectasis, cachexia (BMI 12.9) and severe gastrointestinal symptoms (diarrhoea with blood 15 times per day). Colonoscopy revealed a peculiar inflammatory pattern in the ileum and the colon without healthy sections and deep punched lesions whic

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Pigneur, B., G. Logrieco, U. Cucinotta, F. Ruemmele, and F. Charbit-Henrion. "P0285 Long-term outcome of children with very early-onset non-monogenic colitis: a single center retrospective study." Journal of Crohn's and Colitis 19, Supplement_1 (2025): i729. https://doi.org/10.1093/ecco-jcc/jjae190.0459.

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Abstract Background Very early-onset inflammatory bowel disease (VEOIBD), defined by IBD diagnosed before the age of 6 years, is a challenging condition with complex clinical features and limited long-term data. Our study describes the long-term outcome of patients diagnosed with VEOIBD without any identified genetic mutation. Methods Data on all consecutive patients aged 0–6 years diagnosed with colitis (CD, UC, or IBD-U) at Necker-Enfants Malades Hospital (Paris, France) between 2013 and 2023 were retrospectively reviewed. Patients with monogenic forms of VEOIBD and perianal disease were exc

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Alghoul, Zahra, Chunhua Yang, and Didier Merlin. "The Current Status of Molecular Biomarkers for Inflammatory Bowel Disease." Biomedicines 10, no. 7 (2022): 1492. http://dx.doi.org/10.3390/biomedicines10071492.

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Diagnosis and prognosis of inflammatory bowel disease (IBD)—a chronic inflammation that affects the gastrointestinal tract of patients—are challenging, as most clinical symptoms are not specific to IBD, and are often seen in other inflammatory diseases, such as intestinal infections, drug-induced colitis, and monogenic diseases. To date, there is no gold-standard test for monitoring IBD. Endoscopy and imaging are essential diagnostic tools that provide information about the disease’s state, location, and severity. However, the invasive nature and high cost of endoscopy make it unsuitable for f

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Kaplina, Aleksandra V., Nataliya A. Petrova, Tatiana M. Pervunina, et al. "Necrotizing Enterocolitis: Pathogenetic Features and Differential Diagnosis with Inflammatory Bowel Disease in Newborns." Current Pediatrics 23, no. 6 (2025): 438–46. https://doi.org/10.15690/vsp.v23i6.2830.

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Necrotizing enterocolitis (NEC) is a disease primarily affecting premature infants. NEC pathogenesis is based on the development of inflammation damaging mucous membranes associated with bacterial colonization, intestinal epithelium immaturity, intestinal blood flow regulation, and excessive inflammatory response activation. Inflammatory bowel disease (IBD) with very early onset (VEO-IBD) can also manifest in the neonatal period. They are characterized by severe course, often resistant to traditional immunosuppressive therapy. This article discusses the features of NEC pathogenesis and differe

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Mirza, Nida, and Raja Gulfam Shaikh. "Monogenic Cases of Infantile IBD with Discrete Pathological Pathways: a Case Series." Central European Journal of Paediatrics 19, no. 1 (2023): 45. http://dx.doi.org/10.5457/p2005-114.336.

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Mateos, B., A. Gaite, I. Rodríguez-Lago, and U. M. Marigorta. "DOP79 Alternative polygenic forms of Inflammatory Bowel Disease are not captured by current generations of polygenic risk scores." Journal of Crohn's and Colitis 17, Supplement_1 (2023): i155—i157. http://dx.doi.org/10.1093/ecco-jcc/jjac190.0119.

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Abstract Background Polygenic risk scores (PRSs) have emerged as a promising tool to ascertain individuals at high risk of developing IBD. However, the sensitivity of current PRSs is limited, and will likely remain so in the immediate future. The default expectation is that patients not captured by PRSs must be enriched for rare variants with strong effects and/or environmental risk factors. We set out to investigate an alternative scenario, namely that combinations of common variants in non-GWAS genes conform population of patients that are missed by large genetic studies for the main forms o

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Bolton, Chrissy, Nicola Burch, James Morgan, et al. "Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation." Journal of Crohn's and Colitis 14, no. 1 (2019): 142–47. http://dx.doi.org/10.1093/ecco-jcc/jjz112.

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Abstract Mendelian disorders in glucose-6-phosphate metabolism can present with inflammatory bowel disease [IBD]. Using whole genome sequencing we identified a homozygous variant in the glucose-6-phosphatase G6PC3 gene [c.911dupC; p.Q305fs*82] in an adult patient with congenital neutropenia, lymphopenia and childhood-onset, therapy-refractory Crohn’s disease. Because G6PC3 is expressed in several haematopoietic and non-haematopoietic cells it was unclear whether allogeneic stem cell transplantation [HSCT] would benefit this patient with intestinal inflammation. We show that HSCT resolves G6PC3

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Crowley, E., N. Warner, K. Fiedler, et al. "A13 WHOLE EXOME SEQUENCING OF OVER 1000 PEDIATRIC IBD PATIENTS FROM A SINGLE CENTRE IDENTIFIES MONOGENIC FORMS OF IBD." Journal of the Canadian Association of Gastroenterology 1, suppl_2 (2018): 21. http://dx.doi.org/10.1093/jcag/gwy009.013.

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Petit, Céline, Aurore Rozières, Gilles Boschetti, et al. "Advances in Understanding Intestinal Homeostasis: Lessons from Inflammatory Bowel Disease and Monogenic Intestinal Disorder Pathogenesis." International Journal of Molecular Sciences 26, no. 13 (2025): 6133. https://doi.org/10.3390/ijms26136133.

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Inflammatory bowel diseases (IBDs) are chronic inflammatory conditions of the gastrointestinal tract that are multifactorial in nature. The pathophysiology involves interactions between the host immune system and environmental factors, including the gut microbiota, in genetically predisposed individuals. Advances in understanding these interactions have led to the development of novel therapeutic targets, ranging from anti-TNFα to more recent anti-interleukin 23 treatments. However, some patients still experience resistance to these therapies. Monogenic intestinal diseases (MIDs), which presen

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Alahmari, A. A., A. M. Al-Bahlani, B. Frenette, A. Xuan-Lan Nguyen, N. Ahmed, and A. Sant’Anna. "A251 VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE IN CHILDREN: A SINGLE CENTER EXPERIENCE OVER 15 YEARS." Journal of the Canadian Association of Gastroenterology 3, Supplement_1 (2020): 128–29. http://dx.doi.org/10.1093/jcag/gwz047.250.

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Abstract Background Very-early-onset inflammatory bowel disease (VEOIBD) refers to an IBD diagnosis established before the 6th year of life, including a subset of patients with disease onset before the age of 2 years, known as infantile-onset IBD (IO-IBD) (1). VEO-IBD accounts for 15% of pediatric IBD and infantile IBD in approximately 1% (2,3). VEOIBD is considered to be a unique entity, and compared to adults with IBD, VEO-IBD children are more likely to present with extensive and treatment-resistant disease (4). Aims To analyze the clinical characteristics and management of patients diagnos

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Ensari, Arzu, Judith Kelsen, and Pierre Russo. "Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD." Virchows Archiv 472, no. 1 (2017): 111–23. http://dx.doi.org/10.1007/s00428-017-2197-9.

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Ahamed, Nazmul, Mukesh Khadga, Wahiduzzaman Majumder, and Md Rukunuzzaman. "An Eleven Months Old Infant with Very Early Onset Inflammatory Bowel Diseases (IBD): A Rare Case Report." Bangladesh Medical Journal 50, no. 2 (2022): 45–49. http://dx.doi.org/10.3329/bmj.v50i2.61220.

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Inflammatory bowel disease (IBD) in pediatric cases has been seen rapidly increasing in number over the last decade. Now a days four types of pediatric IBD has been identified: less than ten years of age - early onset IBD, less than six years of age - very early onset IBD, less than two years of age- infantile IBD and less than twenty eight days of age - neonatal onset IBD. Young children presented with more aggressive clinical features and severity is more than the older children and adults. Early onset disease presenting in children may have a monogenic basis. Infantile IBD or neonatal IBD h

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Shcherbakova, Olga V. "Primary immunodeficiency disorders imitating inflammatory bowel diseases: clinical aspects and problems of the differential diagnosis." Almanac of Clinical Medicine 51, no. 8 (2024): 456–68. http://dx.doi.org/10.18786/2072-0505-2023-51-049.

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From the beginning of 2000s, there has been a significant increase in the incidence of inflammatory bowel diseases (IBD) and primary immunodeficiency disorders (PIDs) in adults and children in many countries around the world. The aim of the review is to summarize the state-of-the-art on diverse clinical types of PIDs with gastrointestinal manifestations and their differential diagnostic algorithms. Atypical PIDs with “blunted” clinical manifestations are challenging for the timely diagnosis. Some types of PIDs with gastrointestinal involvement are also difficult to differentiate with cla

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Mehta, M., L. Wang, C. Guo, et al. "A39 NOVEL GAIN OF FUNCTION NON-RECEPTOR TYROSINE KINASE MUTATIONS ARE LINKED TO THE PATHOGENESIS OF VEOIBD." Journal of the Canadian Association of Gastroenterology 3, Supplement_1 (2020): 46–48. http://dx.doi.org/10.1093/jcag/gwz047.038.

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Abstract Background Very early-onset inflammatory bowel disease (VEOIBD) is an emerging global disease, that results in inflammation of the digestive tract. Severe forms of VEOIBD can be caused by mutations in a single gene (monogenic variants) and, can result in death. A candidate gene which codes for a non-receptor tyrosine kinase (nRTK) has recently been implicated as a monogenic cause of IBD (unpublished). Whole exome sequencing was performed in two unrelated children who presented with symptoms of IBD identifying two distinct de novo gain of function mutations (S550Y and P342T). Both muta

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Cao, Siyan, Parakkal Deepak, and Matthew Ciorba. "PATHOGENIC VARIANTS IN A NOVEL JUNCTIONAL COMPLEX GENE CONTRIBUTE TO VERY-EARLY-ONSET-IBD." Inflammatory Bowel Diseases 31, Supplement_1 (2025): S33. https://doi.org/10.1093/ibd/izae282.073.

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Abstract INTRODUCTION Very-early-onset inflammatory bowel disease (VEO-IBD), diagnosed in children younger than 6 years of age, is often associated with a severe disease course and unique characteristics including an elevated likelihood of underlying monogenic etiologies. In this study, we characterized the function of CGNL1, an epithelial junctional protein gene which have been associated VEO-IBD. AIMS & METHODS Whole exome sequencing (WES) was performed on the affected patient and all of his first-degree relatives. Intestinal epithelial organoids (IEOs) were generated from the patient’s

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Collen, L., N. Beckmann, V. Mitsialis, et al. "OP28 Defective STAT3 signaling in refractory Very Early Onset Inflammatory Bowel Disease is associated with a transcriptional signature which predicts response to anti-IL23-based therapies." Journal of Crohn's and Colitis 18, Supplement_1 (2024): i49—i50. http://dx.doi.org/10.1093/ecco-jcc/jjad212.0028.

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Abstract Background Very early onset inflammatory bowel disease (VEOIBD) has a monogenic cause in &gt;5% of cases. IL10R deficiency is among the more common causes of monogenic IBD and presents with severe disease refractory to conventional therapies. For most VEOIBD patients, the molecular basis of disease is unknown. We employed flow cytometry and bulk RNA-sequencing to localize pathway-level dysfunction in VEOIBD patients with unknown molecular basis. Methods VEOIBD patients prospectively enrolled in a biorepository were screened for IL10R deficiency using a flow cytometry assay. Patien

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Dargenio, Vanessa Nadia, Vincenzo Rutigliano, Baldassarre Martire та ін. "Inflammatory Bowel Disease in Activated PI3Kδ Syndrome: An Uncommon Complication of a Rare Condition". BioMed 4, № 4 (2024): 493–98. http://dx.doi.org/10.3390/biomed4040037.

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Background/Objectives: Monogenic primary immunodeficiencies represent a group of disorders with varying levels of severity, many of which remain poorly understood. Activated phosphoinositide-3 kinase delta syndrome (APDS) is a rare genetic condition resulting from dominant point mutations in the phosphoinositide-3 kinase delta (PI3Kδ) gene, which leads to hyperactivation of the PI3Kδ enzyme, primarily expressed in T and B lymphocytes. Children with this mutation often have recurrent sinopulmonary infections and immunodeficiency. Additional complications may include increased susceptibility to

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Bao, Michelle, Meltem Ece Kars, Kyle Gettler, Yuval Itan, and Judy H. Cho. "341 PHEWAS OF MONOGENIC, VEO-IBD GENES IN DIVERSE COHORTS REVEALS IBD RISK-ASSOCIATED VARIANTS AND DEFINES REPLICATED GI AND NON-GI ASSOCIATIONS." Gastroenterology 166, no. 5 (2024): S—79. http://dx.doi.org/10.1016/s0016-5085(24)00679-6.

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Feakins, R. M., J. Torres, P. Borralho-Nunes, et al. "DOP78 The differential diagnosis and clinicopathological spectrum of Inflammatory Bowel Disease: An interesting and informative ECCO topical review." Journal of Crohn's and Colitis 15, Supplement_1 (2021): S110—S111. http://dx.doi.org/10.1093/ecco-jcc/jjab073.117.

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Abstract Background A wide variety of intestinal and non-intestinal diseases can resemble chronic idiopathic inflammatory bowel disease (IBD) clinically and/or pathologically. The aim of the current Topical Review was to explore the differential diagnosis of IBD and to discuss clinical, histomorphological features and ancillary techniques that help distinguish between IBD and its mimics. Methods An open ECCO call led to the selection of 12 participants who formed three working groups (WG) to study the mimics of IBD. WG 1 comprised gastroenterologists, who explored mainly the clinical features.

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Eisenbarth, George S. "Etiology of Organ-Specific Autoimmunity: Basic Research and Clinical Implications in IBD." Canadian Journal of Gastroenterology 10, no. 2 (1996): 121–25. http://dx.doi.org/10.1155/1996/909212.

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Autoimmunity develops in the setting of genetic susceptibility and can be monogenic (eg, autoimmune polyendocrine syndrome type I with Addison’s disease, mucocutaneous candidiasis and hypoparathyroidism, which is autosomal recessive with the causative gene on the tip of chromosome 21) or polygenic (usually with important alleles within the major histocompatibility complex [eg, type I diabetes]). In addition to genetic susceptibility, many autoimmune disorders can be classified into etiological categories (oncogenic, drug-induced, diet-induced, infectious or idiopathic). For most autoimmune dis

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Di Sario, F., L. Olivetti, E. Felici, et al. "P1198 Pediatric inflammatory bowel diseases in patients with genetic syndromes: a case-control multicentre SIGENP study." Journal of Crohn's and Colitis 18, Supplement_1 (2024): i2135—i2136. http://dx.doi.org/10.1093/ecco-jcc/jjad212.1328.

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Abstract Background Genetic syndromes are associated with a strong susceptibility to autoimmune disorders with an increased risk of developing inflammatory bowel diseases (IBD). However, data regarding the impact of genetics in the development of IBD are limited (Gatti S. et al, Frontiers in Pediatrics 2021). Furthermore, patients with genetic syndromes are affected by multiple comorbidities which increase diagnostic and therapeutic complexity as well as the risk of developing adverse reactions to drugs. Methods In this retrospective, multicenter case-control study, we recruited IBD children w

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Zhang, Zinan Z., Yu Zhang, Tingyan He, et al. "Homozygous IL37 mutation associated with infantile inflammatory bowel disease." Proceedings of the National Academy of Sciences 118, no. 10 (2021): e2009217118. http://dx.doi.org/10.1073/pnas.2009217118.

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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-3

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Abdel-Motal, Ussama M., Ahmad Al-Shaibi, Mamoun Elawad, and Bernice Lo. "Zero tolerance! A perspective on monogenic disorders with defective regulatory T cells and IBD-like disease." Immunological Reviews 287, no. 1 (2018): 236–40. http://dx.doi.org/10.1111/imr.12717.

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Lindoso, Livia, Mariana Deboni, Mayra Barros Dorna, Ana Paula Moschione Castro, Antonio Carlos Pastorino, and Ricardo Toma. "P053 Activated PI3K-Delta Syndrome (APDS): A Monogenic Cause of VEO-IBD That Impacts on Treatment." American Journal of Gastroenterology 114, no. 1 (2019): S14. http://dx.doi.org/10.14309/01.ajg.0000613180.48811.fe.

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Crowley, Eileen, Neil E. Warner, K. Fiedler, et al. "587 - Whole Exome Sequencing of over 1000 Pediatric IBD Patients from a Single Centre on an Expanded Gene Panel Identifies Monogenic Forms of IBD." Gastroenterology 154, no. 6 (2018): S—123. http://dx.doi.org/10.1016/s0016-5085(18)30840-0.

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Jabandžiev, Petr, Eva Hlaváčková, Viktor Bílý, et al. "Trichohepatoenteric syndrome in a patient with TTC37 mutations – a case report." Gastroenterologie a hepatologie 74, no. 6 (2020): 481–87. http://dx.doi.org/10.48095/ccgh2020481.

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We report a patient with somatic retardation and woolly hair appearance who suffered from recurring episodes of watery mucous diarrhea, impaired liver functions, and failure to thrive. He manifested with severe infection courses, including hepatitis of unknown origin complicated by liver failure at 4 months, bronchopneumonia at 4 years, and life-threatening sepsis with septic shock at 8 years of age. Esophagogastroduodenoscopy and colonoscopy were performed at 4 years to rule out inflammatory bowel disease (IBD), and only signs of nonspecific colitis were evident. Immunology workup revealed sl

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Mitsialis, V., M. Losa, M. Field, et al. "OP17 IBD ulcers are characterized by bioactive interleukin-1 and transcriptomic hallmarks of stromal cell state reprogramming." Journal of Crohn's and Colitis 18, Supplement_1 (2024): i32—i33. http://dx.doi.org/10.1093/ecco-jcc/jjad212.0017.

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Abstract Background The programs that perpetuate the inflammation and prevent epithelial repair in Inflammatory Bowel Disease (IBD) remain unclear. Interleukin (IL)-1 plays a role in the maintenance of mucosal homeostasis but also in IBD. Expansion of IL-1 expressing myeloid cells is a hallmark of IBD tissue, including severe and anti-TNF unresponsive disease, and IL-1 expression is highly localized to ulcer beds. However, little is known about the presence of bioactive IL-1 proteins in the cell-free mucosal environment of IBD, nor whether IL-1-driven programs affect epithelial regeneration in

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