IgG2 Deficiency and Ataxia-Telangiectasia

Ataxia-telangiectasia is a rare multisystem disorder that generally presents within the first three years of life and culminates in death before the age of 20. Progressive cerebellar ataxia with other neurologic problems and cutaneous venous telangiectases are characteristic. Patients often have recurrent sinopulmonary infections due to humoral and cellular immunodeficiency, associated with thymic hypoplasia or atrophy. Gonadal agenesis and terminal lymphoreticular and epithelial cancer are also features of this puzzling disorder. Despite these protean clinical manifestations, the disease appears to be due to a single autosomal recessive gene.1 Although the precise biochemical defect is uncertain, a central feature in affected . . .