Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome

The immotile-cilia syndrome is an autosomal recessive disease of the microtubules of ciliated cells and spermatozoa, and possibly also of neutrophil leukocytes; it affects approximately 1 in 20,000 people. A variety of aberrations in the axonemal microtubular apparatus has been observed. The most common is deficiency of dynein-arms, which leads to immotility or erratic movement of spermatozoa and respiratory tract cilia. The result is male sterility, and chronic or recurrent respiratory tract infections and bronchiectasis due to absence of mucociliary clearance. In addition, 50% of the persons have situs inversus and hence Kartagener's syndrome.