Autosomal recessive progressiveneurodegenerative childhood disorder associated with

Lack of coordination (cerebellaataxia) and dilation of facial bloodvessels

(telangiectasis) and slurred speech
Patients have defective mechanismsof DNA repair and are predisposed toleukaemias
and lymphomas
Extremely sensitive to radiationexposure and susceptible to chronicrespiratory
infections.

A deficiency of IgA, IgM and/or IgGsubclasses demonstrated.

Chronic sinopulmonary infectionsmajor and related to neurologicalabnormalities.
Diagnosis confirmed with elevated a-fetoprotein levels
Patients may benefit from gammaglobulin infusions.
Therapy includes gamma globulin if IgGor IgG subclass deficiency identified.