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

Author(s)

Torres, L. C. ^{[1, 2]} ; Sugayama, S. M. M. ^[1] ; Arslanian, C. ^[2] ; Sales, M. M. ^[3] ; Carneiro-Sampaio, M. ^[1]

Affiliation

^[1] Univ Sao Paulo, FM, Lab Invest Med LIM 36, Dept Pediat, BR-05403900 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Inst Ciencias Biomed, Dept Imunol, BR-05403900 Sao Paulo - Brazil

^[3] Univ Sao Paulo, Hosp Clin, Lab Invest Med LIM 36, Div Patol Clin, BR-05403900 Sao Paulo - Brazil

• Document type: Journal article
• Source: Brazilian Journal of Medical and Biological Research; v. 43, n. 12, p. 1215-1224, DEC 2010.
• Web of Science Citations: 6

Abstract

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. (AU)

• FAPESP's process: 02/05880-4 - Primary immunodeficiences in high risk pediatric patients: relationships between clinical manifestations and genetic alterations
• Grantee: Magda Maria Sales Carneiro-Sampaio
• Support Opportunities: Research Projects - Thematic Grants