Key result
All three evaluated patients with Rubinstein-Taybi Syndrome and recurrent infections demonstrated a polysaccharide antibody response deficit, suggesting a primary immune deficiency.
Case Report (n=3)
Patients with Rubinstein-Taybi Syndrome and recurrent infections may have a primary immune deficiency, specifically a polysaccharide antibody response deficit.
May warrant immune evaluation in Rubinstein-Taybi syndrome with recurrent infections; leaves open prevalence and generalizability.
Rubinstein-Tabyi Syndrome (RTS) is characterized by broad toes, broad thumbs, facial dysmorphisms, and mental retardation. The syndrome has been shown in some patients to be associated with break points in and microdeletions of chromosome 16p13.3. It is estimated that approximately 75% of patients with RTS experience recurrent respiratory infections. In this study, three patients thought to have RTS and recurrent infections were evaluated for an immunologic deficiency. All three patients showed a polysaccharide antibody response deficit. We conclude that a primary immune deficiency may exist in the remainder of the RTS population and may explain the reason for the propensity for recurrent infections. Aggressive investigation and management in patients with RTS may further determine the mechanism of this deficiency and enhance the quality of life of these patients.
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Naimi et al. (2006) conducted a case report in Rubinstein-Taybi Syndrome (RTS) and recurrent infections (n=3). Immunologic evaluation was evaluated on Polysaccharide antibody response deficit. All three evaluated patients with Rubinstein-Taybi Syndrome and recurrent infections demonstrated a polysaccharide antibody response deficit, suggesting a primary immune deficiency.
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