Rubinstein–Taybi syndrome: An immune deficiency as a cause for recurrent infections

Abstract

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.

Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome

“…All RTS patients presented post-vaccinal levels of antipolysaccharide pneumococcal IgG considered to be protective against most of the 10 serotypes of the 23-valent pneumococcal vaccine tested. The protective antibody responses to polysaccharides observed in our study are in contrast to the findings of Naimi et al (24) who showed a defective anti-polysaccharide antibody response in three RTS patients. Our results showed that RTS patients did not present defects in the production of antibodies against both T-dependent (anti-tetanus toxoid IgG) and T-independent (anti-pneumococcal IgG) antigens.…”

Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome

“…33,34 Hypoacusia (24%) and recurrent middle ear infections are reported. 35,36 Among ocular anomalies, strabismus (60-71%), refractive errors (41-56%), lacrimal duct obstructions (38-47%), glaucoma, unilateral/bilateral iris/retinal/optic nerve coloboma (9-11%), and cataract (peripheral avascularity) in order of prevalence have been described. 37,38 Skeletal malformations mainly concern thumbs and big toes, which are frequently broad and short (96%) and laterally deviated in one-third of cases.…”

Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?

“…Many patients have gastroesophageal reflux disease [Grunow, 1982; Partington, 1990]. Approximately 75% of patients experience recurrent respiratory infections, likely resulting from an immune deficiency consisting of polysaccharide antibody response deficit [Naimi et al, 2006].…”