Immuno-osseous dysplasia

Definition

This is an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.

Also indexed as

Nearby in Other well-defined immunodeficiency syndromes due to defects in adaptive immunity

• 4A01.30Immunodeficiency due to defects of the thymus
• 4A01.31DNA repair defects other than combined T-cell or B-cell immunodeficiencies
• 4A01.33Hepatic veno-occlusive disease - immunodeficiency syndrome
• 4A01.34Hyperimmunoglobulin E syndromes