ArticleBMJ case reports2022
A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia.
Article in BMJ case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Article
- Development and Validation of the PASS Score: A Simplified Tool to Diagnose Acquired Aplastic Anemia in Adults.Research square · 2026Article
- Origins of T-cell-mediated autoimmunity in acquired aplastic anaemia.British journal of haematology · 2025Review
- Retrospective identification of the first cord blood-transplanted severe aplastic anemia in aFrontiers in immunology · 2024Review
- Gain-of-function defects in toll-like receptor 8 shed light on the interface between immune system and bone marrow failure disorders.Frontiers in immunology · 2022Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acquired aplastic anaemia is a rare disease, and occurrence in more than one member of the same family is uncommon. With this case report, we wish to highlight the importance of searching for an underlying genetic cause when this occurs. It may have consequences for future generations in affected families. CTLA4 haploinsufficiency is a heterogeneous disease entity with severe systemic immune dysregulation associated with several autoimmune diseases including aplastic anaemia.
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Registered trials
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