Abstract
RATIONALE: Stickler syndrome (hereditary arthro-ophthalmopathy) is an autosomal dominant connective tissue disorder with ocular, auditory, oral-facial, skeletal and cardiac manifestations, caused by mutations in type II or type XI collagen. Prevalence of Stickler syndrome is approximately 1 in 10,000. This is a case report of immune deficiency in a patient with Stickler syndrome.
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