ArticleIntestinal research2022
A case of autoimmune enteropathy with CTLA4 haploinsufficiency.
Article in Intestinal research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.Frontiers in immunology · 2021Pooled it
- Clinical and genetic features of CTLA-4 haploinsufficiency: a prospective study in China.BMC rheumatology · 2026Article
- Diagnostic clues in patients with clinical malabsorption and pathological small intestinal villous atrophy: Immune-mediated type and beyond.World journal of gastroenterology · 2026Review
- Novel pathogenicFrontiers in immunology · 2026Article
- Non-Celiac Villous Atrophy-A Problem Still Underestimated.Life (Basel, Switzerland) · 2025Review
- Advances and challenges in diagnosing and managing adult autoimmune enteropathy.World journal of gastroenterology · 2025Review
- Engineering nanoparticle therapeutics for food allergy.The Journal of allergy and clinical immunology · 2024Review
- Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes.World journal of clinical pediatrics · 2022Review
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Authors and funding
18 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune enteropathy (AIE) is a rare disease, characterized by intractable diarrhea, villous atrophy of the small intestine, and the presence of circulating anti-enterocyte autoantibodies. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, and mutations in FOXP3, which is a master gene of regulatory T cells (Tregs), are major causes of AIE. Recent studies have demonstrated that mutations in other Treg-associated genes, such as CD25 and CTLA4, show an IPEX-like phenotype. We present the case of a 13-year-old girl with CTLA4 haploinsufficiency, suffering from recurrent immune thrombocytopenic purpura and intractable diarrhea. We detected an autoantibody to the AIE-related 75 kDa antigen (AIE-75), a hallmark of the IPEX syndrome, in her serum. She responded well to a medium dose of prednisolone and a controlled dose of 6-mercaptopurine (6-MP), even after the cessation of prednisolone administration. Serum levels of the soluble interleukin-2 receptor and immunoglobulin G (IgG) were useful in monitoring disease activity during 6-MP therapy. In conclusion, autoimmune-mediated mechanisms, similar to the IPEX syndrome, may be involved in the development of enteropathy in CTLA4 haploinsufficiency. Treatment with 6-MP and monitoring of disease activity using serum levels of soluble interleukin-2 receptor and IgG is suggested for such cases.
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