ArticleJournal of clinical immunology2010
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency.
Article in Journal of clinical immunology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 55 citations in OpenAlex.
- Nucleases and Their Inhibitors: Exploring Biological Roles, Industrial Applications, and Challenges in Heterologous Expression.Biotechnology journal · 2026Review
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- Implication of digestive functions and microbiota in the establishment of muscle glycogen differences between divergent lines for ultimate pH.Scientific reports · 2024Article
- Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.Human genetics · 2023Review
- Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases.Pharmaceutics · 2023Review
- Linking Genetic Diagnosis to Therapeutic Approach in Very Early Onset Inflammatory Bowel Disease: Pharmacologic Considerations.Paediatric drugs · 2022Review
- Could β-Lactam Antibiotics Block Humoral Immunity?Frontiers in immunology · 2021Review
- The Growing Need to Understand Very Early Onset Inflammatory Bowel Disease.Frontiers in immunology · 2021Review
- A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.Frontiers in immunology · 2021Article
- Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.Inflammatory bowel diseases · 2020Review
- [The gut: center of immunity : Rare inflammatory bowel diseases caused by immunodeficiencies].Der Pathologe · 2020Review
- Genetics on early onset inflammatory bowel disease: An update.Genes & diseases · 2020Review
- Recent Advance in Very Early Onset Inflammatory Bowel Disease.Pediatric gastroenterology, hepatology & nutrition · 2019Review
- Recent advance in very early-onset inflammatory bowel disease.Intestinal research · 2019Article
- Establishment and Development of the First Biobank of Inflammatory Bowel Disease, Suspected to Primary Immunodeficiency Diseases in Iran.Advanced biomedical research · 2018Article
- Opportunities and challenges of whole-genome and -exome sequencing.BMC genetics · 2017Review
- Genetics of inflammatory bowel disease from multifactorial to monogenic forms.World journal of gastroenterology · 2015Review
- The diagnostic approach to monogenic very early onset inflammatory bowel disease.Gastroenterology · 2014Review
- Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.Journal of clinical immunology · 2014Article
- Inflammatory bowel disease: is it a primary immunodeficiency?Cellular and molecular life sciences : CMLS · 2012Review
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionWe describe a girl presenting at age 6 years with a history of chronic ulcerating intestinal inflammation since 9 months of age. She exhibited a severe, steroid-dependent clinical course of intestinal inflammation over several years in the absence of serious infections. RESULTS AND DISCUSSION: Immunodeficiency was first considered at 6 years of age due to chronic lymphopenia. Immunophenotyping revealed low B and T cell counts with few naïve T cells, a skewed TCR repertoire, and TCR gamma/delta T cell predominance, suggesting a defect of lymphocyte development. Genetic and functional analyses identified a hypomorphic mutation in the DCLRE1C (ARTEMIS) gene compromising V(D)J recombination efficiency, but allowing residual T and B cell development. Hematopoetic stem cell transplantation reconstituted the lymphocyte compartment and cured the inflammatory bowel disease.
conclusionThis report illustrates that a genetic disorder of lymphocyte development can present with chronic inflammatory bowel disease as the dominant phenotype in the absence of severe infection susceptibility.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.