ArticleFrontiers in immunology2022
Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report.
Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Diagnostic clues in patients with clinical malabsorption and pathological small intestinal villous atrophy: Immune-mediated type and beyond.World journal of gastroenterology · 2026Review
- Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.NPJ genomic medicine · 2025Article
- A novelFrontiers in immunology · 2025Article
- 2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.Journal of clinical immunology · 2024Article
- Bromelain-loaded nanocomposites decrease inflammatory and cytotoxicity effects of gliadin on Caco-2 cells and peripheral blood mononuclear cells of celiac patients.Scientific reports · 2023Article
- Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance inWorld journal of clinical cases · 2023Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Primary immunodeficiency may present with treatment-refractory enteropathy. We present two patients with celiac/celiac-like disease diagnosed in early childhood and refractory to the gluten-free diet. One patient had features of multi-system autoimmunity, whereas the other had celiac-like disease as an isolated clinical finding. Both patients underwent genetic testing given disease refractoriness and were ultimately diagnosed with cytotoxic T lymphocyte antigen 4 (CTLA4) haploinsufficiency. They are both now in complete clinical and endoscopic remission on abatacept. CTLA4 haploinsufficiency has incomplete penetrance and significant phenotypic heterogeneity but should be considered in the differential diagnosis of refractory celiac/celiac-like disease, as treatment implications are significant.
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