Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome

Author: Roifman, Chaim M

Source: Clinical Genetics, Volume 55, Number 2, February 1999 , pp. 103-109(7)

Publisher: Blackwell Publishing

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Abstract:

The clinical and laboratory combination of recurrent infections due to antibody deficiency, spondyloepiphyseal dysplasia, growth retardation and retinal dystrophy is novel. Four patients with strikingly similar phenotypes from three different families of diverse genetic backgrounds are described, suggesting a similar underlying genotype. Increased awareness of this syndrome will hopefully lead to the description of a larger number of affected individuals, which ultimately might be critical for its genetic characterization.

Keywords: antibody deficiency; B-cell development; retinal dystrophy; signal transduction; spondyloepiphyseal dysplasia

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.550206.x

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