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Case Reports: Rare disease
A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia
  1. Terje Singsaas Solhaug1,
  2. Geir Erland Tjønnfjord2,
  3. Kathrine Bjørgo3 and
  4. Odd Kildahl-Andersen4
  1. 1Hematology, Nordlandssykehuset HF, Bodo, Norway
  2. 2Hematology, Oslo Universitetssykehus, Oslo, Norway
  3. 3Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
  4. 4Department of Internal Medicine, University Hospital of North Norway, Tromsø, Norway
  1. Correspondence to Dr Terje Singsaas Solhaug; terje.solhaug{at}gmail.com

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.

  • genetics
  • haematology (incl blood transfusion)
  • immunology
  • malignant and benign haematology

https://doi.org/10.1136/bcr-2021-247653

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    Footnotes

    • Contributors TSS conceived the idea to write the manuscript. TSS, GET and OK-A cared for the patients and collected clinical data. KB was responsible for the molecular genetic analysis. All authors interpreted data, revised the manuscript and approved the final version.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.