The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency

Abstract

Three children, two of them siblings, with severe combined immunodeficiency and adenosine deaminase deficiency died within the first six months of life from the complications of acute bacterial infections. Subtle radiographic abnormalities were seen at the costochondral junctions, at the apophysis of the iliac bones, and in the vertebral bodies. At autopsy, the thymus showed evidence of early differentiation and, in one instance, aborted Hassall's corpuscles. Histologic study of the bone disclosed lack of organized cartilage columnar formation, large lacuni containing hypertrophied cells, and lack of trabecular formation with uninterrupted areas of calcified cartilage. These changes are distinctly different from those observed in the metaphyseal chondrodysplasias or in other chondrodystrophies.