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

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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 ∼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.

Document Type: Research Article

DOI: http://dx.doi.org/10.2500/aap.2006.27.2864

Publication date: May 1, 2006

More about this publication?
  • Allergy and Asthma Proceedings is a peer reviewed publication dedicated to distributing timely scientific research regarding advancements in the knowledge and practice of allergy, asthma and immunology. Its primary readership consists of allergists and pulmonologists.

    The goal of the Proceedings is to publish articles with a predominantly clinical focus which directly impact quality of care for patients with allergic disease and asthma.

    Featured topics include asthma, rhinitis, sinusitis, food allergies, allergic skin diseases, diagnostic techniques, allergens, and treatment modalities. Published material includes peer-reviewed original research, clinical trials and review articles.

    Articles marked "F" offer free full text for personal noncommercial use only.

    The journal is indexed in Thomson Reuters Web of Science and Science Citation Index Expanded, plus the National Library of Medicine's PubMed service.
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