| Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome. | |
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MedLine Citation:
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PMID: 21085895 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency, and recurrent respiratory infections. RTS has been associated with CREBBP gene mutations, but EP300 gene mutations have recently been reported in 6 individuals. In the present study, the humoral immune response in 16 RTS patients with recurrent respiratory infections of possible bacterial etiology was evaluated. No significant differences between patients and 16 healthy controls were detected to explain the high susceptibility to respiratory infections: normal or elevated serum immunoglobulin levels, normal salivary IgA levels, and a good antibody response to both polysaccharide and protein antigens were observed. However, most patients presented high serum IgM levels, a high number of total B cell and B subsets, and also high percentiles of apoptosis, suggesting that they could present B dysregulation. The CREBBP/p300 family gene is extremely important for B-cell regulation, and RTS may represent an interesting human model for studying the molecular mechanisms involved in B-cell development. |
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Authors:
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L C Torres; S M M Sugayama; C Arslanian; M M Sales; M Carneiro-Sampaio |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-11-12 |
Journal Detail:
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Title: Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] Volume: 43 ISSN: 1414-431X ISO Abbreviation: Braz. J. Med. Biol. Res. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-12-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8112917 Medline TA: Braz J Med Biol Res Country: Brazil |
Other Details:
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Languages: eng Pagination: 1215-24 Citation Subset: IM |
Affiliation:
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Departamento de Imunologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, SP, Brasil. ltorres@usp.br |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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