Autozomálně dominantní
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.
Příznaky a projevy
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.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
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
