Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome
Braz. j. med. biol. res
; 43(12): 1215-1224, Dec. 2010. ilus, tab
Article
in English
| LILACS
| ID: lil-568996
Responsible library:
BR1.1
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Respiratory Tract Infections
/
Rubinstein-Taybi Syndrome
/
Immunoglobulins
/
B-Lymphocytes
/
Immunity, Humoral
/
Antibodies, Monoclonal
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2010
Document type:
Article