• Home
  • Search Results
  • Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome.

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

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas (2010-11-19)
L C Torres, S M M Sugayama, C Arslanian, M M Sales, M Carneiro-Sampaio
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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
IgM from human serum, reagent grade, ~95% (HPLC), buffered aqueous solution
Sigma-Aldrich
Anti-Human IgA (α-chain specific) antibody produced in goat, affinity isolated antibody, lyophilized powder
Sigma-Aldrich
Anti-Human IgG (whole molecule) antibody produced in goat, whole antiserum
Sigma-Aldrich
Anti-Human IgA (α-chain specific) antibody produced in goat, whole antiserum

Social Media

LinkedIn icon
Twitter icon
Facebook Icon
Instagram Icon

MilliporeSigma

Research. Development. Production.

We are a leading supplier to the global Life Science industry with solutions and services for research, biotechnology development and production, and pharmaceutical drug therapy development and production.

© 2021 Merck KGaA, Darmstadt, Germany and/or its affiliates. All Rights Reserved.

Reproduction of any materials from the site is strictly forbidden without permission.