A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia

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.

Keywords: genetics; haematology (incl blood transfusion); immunology; malignant and benign haematology.