ArticleFrontiers in immunology2017
Novel Mutations of the
Article in Frontiers in immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 51 citations in OpenAlex.
- Monogenic inflammatory bowel disease: An unfolding enigma.World journal of clinical pediatrics · 2025Review
- Special Considerations in Pediatric Inflammatory Bowel Disease Pathology.Diagnostics (Basel, Switzerland) · 2025Review
- TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.Clinical reviews in allergy & immunology · 2025Review
- Case Report: Prenatal diagnosis of gastrointestinal defects and immunodeficiency syndrome caused by compound heterozygous mutations in TTC7A gene.Frontiers in immunology · 2025Article
- Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis.Inflammatory bowel diseases · 2024Review
- Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A).Intractable & rare diseases research · 2024Review
- Meconium peritonitis in multiple intestinal atresia with combined immune deficiency caused by aSAGE open medical case reports · 2024Article
- Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease.Journal of clinical immunology · 2023Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Too much of a good thing: a review of primary immune regulatory disorders.Frontiers in immunology · 2023Review
- Article
- Clinical Characteristics,Frontiers in genetics · 2022Article
- Understanding inborn errors of immunity: A lens into the pathophysiology of monogenic inflammatory bowel disease.Frontiers in immunology · 2022Review
- Gut Microbiota-Host Interactions in Inborn Errors of Immunity.International journal of molecular sciences · 2021Review
- A Novel HomozygousFrontiers in immunology · 2021Article
- The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.Scientific reports · 2020Article
- Immune dysregulation syndrome with de novo CTLA4 germline mutation responsive to abatacept therapy.International journal of hematology · 2020Article
- A case of severe malnutrition infant with neonatal onset intractable diarrhea.BMC pediatrics · 2020Article
- Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency.Gastroenterology · 2020Article
- Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A Deficiency.ACG case reports journal · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal. Candidate genetic approach targeted to genes involved in PIDs with inflammatory bowel disease (IBD)-like manifestation was unrevealing. Whole-genome sequencing revealed novel heterozygous mutations Glu75Lys and nucleotide 520-521 CT deletion in the
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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.