title: Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome.
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.
authors.affiliation: Departamento de Imunologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, SP, Brasil. ltorres@usp.br
authors.forename: L C
authors.initials: LC
authors.lastname: Torres
authors.forename: S M M
authors.initials: SM
authors.lastname: Sugayama
authors.forename: C
authors.initials: C
authors.lastname: Arslanian
authors.forename: M M
authors.initials: MM
authors.lastname: Sales
authors.forename: M
authors.initials: M
authors.lastname: Carneiro-Sampaio
mesh_terms: D000293:Adolescent; D000911:Antibodies, Monoclonal / Q000032:analysis* / Q000276:immunology; D001402:B-Lymphocytes / Q000276:immunology*; D050882:CREB-Binding Protein / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D056724:Immunity, Humoral / Q000235:genetics / Q000276:immunology*; D007136:Immunoglobulins / Q000032:analysis* / Q000276:immunology; D008297:Male; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000276:immunology*; D012415:Rubinstein-Taybi Syndrome / Q000276:immunology*; D055815:Young Adult
chemical_list: D000911:Antibodies, Monoclonal; D007136:Immunoglobulins; D050882:CREB-Binding Protein