Autosomal dominant
Caused by inherited changes in one copy of PAX5, a transcription factor needed for B-cell development. Leukaemia has been linked to PAX5 changes in blood cells (S3), and not everyone with the change develops it.
Signs and symptoms
Those affected develop B-cell acute lymphoblastic leukaemia, with symptoms such as tiredness, pallor, bruising, infections or bone pain. Families may have several relatives with ALL.
What a diagnosis changes
There is no established surveillance programme; awareness of symptoms and prompt blood tests are the main approach. Knowing the change matters when choosing a related stem cell donor, as relatives should be tested first. Genetic counselling and testing of relatives are available.
Genes analysed
Also known as
ALL3; leukemia, acute lymphoblastic, susceptibility to, type 3; PAX5 precursor B-cell acute lymphoblastic leukaemia; PAX5 precursor B-cell acute lymphoblastic leukemia; PAX5-related leukemia predisposition; precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5; precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5; susceptibility to acute lymphoblastic leukaemia 3
