Syndromic Multisystem Autoimmune Disease due to ITCH Deficiency
Autoszomális recesszív
Caused by changes in both copies of ITCH, which encodes an enzyme that tags proteins for breakdown and helps limit immune activation. It was first described in an Old Order Amish family with a shared founder change.
Tünetek és jelek
Autoimmune and inflammatory disease beginning in childhood, most often chronic lung disease, along with inflammation of the liver and gut and autoimmune thyroid disease or diabetes. Poor growth, developmental delay, a large head and distinctive facial features are common. Less often there is an enlarged liver and spleen.
Mit változtat a diagnózis
Care is led by an immunologist, with treatment of autoimmune complications and monitoring of lung, liver, gut and endocrine function. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.
Vizsgált gének
Más néven
ADMFD; autoimmune disease, multisystem, with facial dysmorphism; syndromic multisystem autoimmune disease; ITCH E3 ubiquitin ligase deficiency
