Otofaciocervical Syndrome Type 2
Autoszomális recesszív
Caused by changes in both copies of PAX1, which is needed for development of the thymus and some skeletal structures. Thymic aplasia or hypoplasia is associated with impaired T cell immunity.
Tünetek és jelek
Severe immune deficiency, with low T cells and corrective treatment needed in some cases. Ear differences, conductive hearing loss, distinctive facial features, short stature and spinal deformity are reported. Hypoparathyroidism and heart defects also occur in some people.
Mit változtat a diagnózis
Infection prevention and urgent immunology care. Thymus transplantation has given better T cell recovery than stem cell transplantation, which gave poor immune reconstitution in a series of patients. Hearing support and orthopaedic review are also needed. Both parents of an affected child are carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.
Vizsgált gének
Más néven
OFC2; OTFCS2; otofaciocervical syndrome caused by mutation in PAX1; PAX1 otofaciocervical syndrome
