SH2B3-Related Immune System Disorder
Caused by loss-of-function changes in SH2B3, which encodes LNK, an adaptor protein that dampens cytokine signalling through the JAK-STAT pathway in blood and immune cells. Changes in one copy reduce LNK function, and a heterozygous SH2B3 change has been reported with immune dysregulation in a family that also carried a CBL change.
Příznaky a projevy
Reported people with SH2B3 changes have had immune dysregulation, with lymphoproliferation, cytopenia and altered T-cell behaviour. A common SH2B3 variant is reported as a risk factor for several autoimmune diseases, including type 1 diabetes, and raised blood counts have been linked to SH2B3 variants. Only a small number of families have been reported, so the full range of features is still being defined.
Co se diagnózou změní
Care is led by immunology and haematology specialists, with treatment of autoimmune and blood complications and monitoring of blood counts. Genetic counselling and testing of relatives help clarify risks in the family.
Analyzované geny
Známé také jako
SH2B3-related myeloproliferation and autoimmunity
