Ataxia Telangiectatic (Louis-Bar Syndrome)

A relatively rare disease with an autosomal recessive pattern of inheritance. The pathogenesis has not been fully revealed. In recent years, more and more supporters have gained the opinion that impaired DNA repair causes chromosome deletion, as well as the manifestation of clinical symptoms in general. Abnormalities are usually associated with chromosome 14. IgA deficiency is not explained by the absence of the corresponding structural gene, but by a block in cell maturation (IgA persistence) and the production of aHTH-IgA antibodies.

A causal relationship between immune, vascular and neurological disorders has not been proven. The clinical picture is characterized by progressive impairment of motor coordination, telangiectasia, slow mental and physical development, and in most cases the presence of infectious processes, mainly of the respiratory tract. Tumors of lymphoreticular tissue are observed.

Often the main signs of the disease appear only at the age of 3-5-15 years. In addition to these signs, there is a sharp decrease in the levels of IgA, IgE and in 10-12% of cases IgG. In 40% of patients, autoimmune reactions are detected (antibodies to thyroglobin, mitochondria, immunoglobulins, etc.) and in all cases - a violation of cellular immunity. The death of a child usually occurs suddenly due to infection and/or malignancy. Patients rarely reach the age of 20-30 years.

The diagnosis is confirmed by medical history, clinical manifestations, and the detection of low levels of immunoglobulins in the blood. Differential diagnosis is carried out with immunodeficiency diseases of other origins. Treatment is symptomatic. IgA replacement therapy is not completely safe.

The prognosis is unfavorable.