They often have recurrent infections, autoimmune diseases and increased numbers of malignancies. Patients with variants of the Turner Syndrome, including mosaics, may show the same features. The known inter-relationship between new bone formation, lymphocytes and cytokines leads to the expectation of some forms of skeletal dysplasia in patients with immunodeficiency. In the syndromes listed below, immunodeficiency is frequently although not universally present. The term is used to describe a group of patients in which stature is disproportionately reduced, with greater involvement of the limbs than the trunk.
Most patients have frequent infections and demonstrably defective cellular immunity.
The defects in cellular immunity probably relate to lymphopenia, particularly of T cells. B-cell numbers and functions are normal. The gene defect and map location are unknown. Generalized growth retardation is common in children with recurrent infections, malnutrition and chronic pulmonary disease. Schimke immuno-osseous dysplasia.