Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
| Autor: | Manuela Cortesi, Elisabetta Prada, Davide Montin, Fabio Cardinale, Alessia Morreale, Silvia Ricci, Antonio Marzollo, Mathilde Nizon, Igor Romaniouk, Donatella Milani, Richard Herriot, Raffaele Badolato, Francesco Saettini, Cristina Gervasini, Daniele Zama, Marie Vincent, Andrea Biondi, Vassilios Lougaris, Elena Domínguez-Garrido, Rika Kosaki |
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| Přispěvatelé: | Saettini, F, Herriot, R, Prada, E, Nizon, M, Zama, D, Marzollo, A, Romaniouk, I, Lougaris, V, Cortesi, M, Morreale, A, Kosaki, R, Cardinale, F, Ricci, S, Dominguez-Garrido, E, Montin, D, Vincent, M, Milani, D, Biondi, A, Gervasini, C, Badolato, R, Saettini F., Herriot R., Prada E., Nizon M., Zama D., Marzollo A., Romaniouk I., Lougaris V., Cortesi M., Morreale A., Kosaki R., Cardinale F., Ricci S., Dominguez-Garrido E., Montin D., Vincent M., Milani D., Biondi A., Gervasini C., Badolato R. |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
Pediatrics lymphoproliferation T-Lymphocytes Autoimmunity medicine.disease_cause Cohort Studies Hypogammaglobulinemia Medical microbiology Prevalence Immunology and Allergy Child Immunodeficiency Rubinstein-Taybi Syndrome EP300 B cell B-Lymphocytes humoral defects Incidence B-Lymphocyte humoral defect Middle Aged CREBBP syndromic immunodeficiency Immunoglobulin Isotypes Phenotype Immune System Diseases Child Preschool Cohort Female Disease Susceptibility Human Cohort study Adult medicine.medical_specialty Rubinstein–Taybi syndrome Adolescent Immune System Disease hypogammaglobulinemia Immunology Genetic Association Studie Young Adult antibody deficiency B cells medicine Humans Genetic Association Studies antibody deficiency B cells CREBBP EP300 humoral defects lymphoproliferation Rubinstein–Taybi syndrome syndromic immunodeficiency business.industry Infant Biomarker Immune dysregulation medicine.disease Immunoglobulin Isotype T-Lymphocyte Mutation Primary immunodeficiency Cohort Studie business Biomarkers |
| Popis: | Although recurrent infections in Rubinstein–Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have not been extensively described with only isolated cases or small case series of immune deficiency and dysregulation having been reported. The objective of this study was to investigate primary immunodeficiency (PID) and immune dysregulation in an international cohort of patients with RSTS. All published cases of RSTS were identified. The corresponding authors and researchers involved in the diagnosis of inborn errors of immunity or genetic syndromes were contacted to obtain up-to-date clinical and immunological information. Ninety-seven RSTS patients were identified. For 45 patients, we retrieved data from the published reports while for 52 patients, a clinical update was provided. Recurrent or severe infections, autoimmune/autoinflammatory complications, and lymphoproliferation were observed in 72.1%, 12.3%, and 8.2% of patients. Syndromic immunodeficiency was diagnosed in 46.4% of individuals. Despite the broad heterogeneity of immunodeficiency disorders, antibody defects were observed in 11.3% of subjects. In particular, these patients presented hypogammaglobulinemia associated with low B cell counts and reduction of switched memory B cell numbers. Immunoglobulin replacement therapy, antibiotic prophylaxis, and immunosuppressive treatment were employed in 16.4%, 8.2%, and 9.8% of patients, respectively. Manifestations of immune dysfunctions, affecting mostly B cells, are more common than previously recognized in patients with RSTS. Full immunological assessment is warranted in these patients, who may require detailed investigation and specific supportive treatment. [Figure not available: see fulltext.] |
| Databáze: | OpenAIRE |
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