{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16(1)"],"submitter":["Siano MA"],"pubmed_abstract":["<h4>Background</h4>Abnormalities of the immune system are rarely reported in patients affected by RASopathies. Aim of the current study was to investigate the prevalence of immune system dysfunction in a cohort of patients affected by RASopathies.<h4>Study design</h4>A group of 69 patients was enrolled: 60 at the Federico II University, Naples, 7 at University Magna Graecia of Catanzaro, 2 at \"Scuola Medica Salernitana\", Salerno. An age- and sex-matched control group was also enrolled. Autoimmune disorders were investigated according to international consensus criteria. Immune framework was also evaluated by immunoglobulin levels, CD3, CD4, CD8, CD19, CD56 lymphocyte subpopulations, autoantibodies levels and panel of inflammatory molecules, in both patients and controls.<h4>Results</h4>Fre"],"journal":["Orphanet journal of rare diseases"],"pagination":["410"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8487584"],"repository":["biostudies-literature"],"pubmed_title":["Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity."],"pmcid":["PMC8487584"],"pubmed_authors":["Sestito S","Perruolo G","Strisciuglio P","Di Candia F","D'Esposito V","Formisano P","Pagano S","Marchetti V","Concolino D","Alessio M","De Brasi D","De Luca A","Siano MA","Pinna V","Tartaglia M","Melis D","Cabaro S"],"additional_accession":[]},"is_claimable":false,"name":"Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity.","description":"<h4>Background</h4>Abnormalities of the immune system are rarely reported in patients affected by RASopathies. Aim of the current study was to investigate the prevalence of immune system dysfunction in a cohort of patients affected by RASopathies.<h4>Study design</h4>A group of 69 patients was enrolled: 60 at the Federico II University, Naples, 7 at University Magna Graecia of Catanzaro, 2 at \"Scuola Medica Salernitana\", Salerno. An age- and sex-matched control group was also enrolled. Autoimmune disorders were investigated according to international consensus criteria. Immune framework was also evaluated by immunoglobulin levels, CD3, CD4, CD8, CD19, CD56 lymphocyte subpopulations, autoantibodies levels and panel of inflammatory molecules, in both patients and controls.<h4>Results</h4>Fre","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Oct","modification":"2025-04-19T18:16:05.8Z","creation":"2022-02-11T11:48:27.419Z"},"accession":"S-EPMC8487584","cross_references":{"pubmed":["34600590"],"doi":["10.1186/s13023-021-02050-6"]}}