Subject(s)
Immunity, Humoral , Immunologic Deficiency Syndromes/immunology , Respiratory Tract Infections/immunology , Rubinstein-Taybi Syndrome/immunology , Child , Female , Humans , Immunoglobulins, Intravenous/administration & dosage , Immunologic Deficiency Syndromes/diagnosis , Immunologic Factors/administration & dosage , Immunologic Tests , Predictive Value of Tests , Recurrence , Respiratory Tract Infections/diagnosis , Respiratory Tract Infections/drug therapy , Rubinstein-Taybi Syndrome/diagnosis , Treatment OutcomeABSTRACT
No disponible
Subject(s)
Humans , Female , Child , Rubinstein-Taybi Syndrome/immunology , Immunity, Humoral/immunology , Immunologic Deficiency Syndromes/immunology , Dandy-Walker Syndrome/immunology , Respiratory Tract Infections/immunologyABSTRACT
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.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Young Adult , Antibodies, Monoclonal/analysis , B-Lymphocytes/immunology , Immunity, Humoral/immunology , Immunoglobulins/analysis , Respiratory Tract Infections/immunology , Rubinstein-Taybi Syndrome/immunology , Antibodies, Monoclonal/immunology , Case-Control Studies , CREB-Binding Protein/genetics , Immunity, Humoral/genetics , Immunoglobulins/immunology , RecurrenceABSTRACT
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.
Subject(s)
Antibodies, Monoclonal/analysis , B-Lymphocytes/immunology , Immunity, Humoral/immunology , Immunoglobulins/analysis , Respiratory Tract Infections/immunology , Rubinstein-Taybi Syndrome/immunology , Adolescent , Antibodies, Monoclonal/immunology , CREB-Binding Protein/genetics , Case-Control Studies , Child , Child, Preschool , Female , Humans , Immunity, Humoral/genetics , Immunoglobulins/immunology , Male , Recurrence , Young AdultABSTRACT
Rubinstein-Tabyi Syndrome (RTS) is characterized by broad toes, broad thumbs, facial dysmorphisms, and mental retardation. The syndrome has been shown in some patients to be associated with break points in and microdeletions of chromosome 16p13.3. It is estimated that approximately 75% of patients with RTS experience recurrent respiratory infections. In this study, three patients thought to have RTS and recurrent infections were evaluated for an immunologic deficiency. All three patients showed a polysaccharide antibody response deficit. We conclude that a primary immune deficiency may exist in the remainder of the RTS population and may explain the reason for the propensity for recurrent infections. Aggressive investigation and management in patients with RTS may further determine the mechanism of this deficiency and enhance the quality of life of these patients.
Subject(s)
Immunocompromised Host , Respiratory Tract Infections/etiology , Rubinstein-Taybi Syndrome/immunology , Adolescent , Adult , Antibody Formation/physiology , Humans , Male , RecurrenceABSTRACT
A boy aged 2 years 8 months presenting the Rubinstein-Taybi Syndrome (RTS) and a history of recurrent gastrointestinal and respiratory infections was studied. Partial deficient cell immunity and intermittent hyperaminoacidemia and aminoaciduria were ascertained. These findings were interpreted as evidence of phenotypic and probably genetic heterogeneity of RTS.
