{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cirillo E"],"funding":["Telethon"],"pagination":["1908"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6700292"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10"],"pubmed_abstract":["Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of the genetic basis, they are often difficult to recognize, leading to a significant diagnostic delay (DD). Aim of this study is to define presenting signs and natural history of SCID in a large cohort of patients, prior to hematopoietic stem cell or gene therapies. To this purpose, we conducted a 30-year retro-prospective multicenter study within the Italian Primary Immunodeficiency Network. One hundred eleven patients, diagnosed as typical or atypical SCID according to the European Society for Immune Deficiencies criteria, were included. P"],"journal":["Frontiers in immunology"],"pubmed_title":["Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network."],"pmcid":["PMC6700292"],"funding_grant_id":["TGT16S01"],"pubmed_authors":["Prencipe R","Specchia F","Lougaris V","Montin D","Giardino G","Di Matteo G","Ricci S","Barzaghi F","Pession A","Locatelli F","Aiuti A","Putti MC","Rossi P","Pignata C","Martire B","Esposito F","Plebani A","Scarselli A","Giliani S","Pierani P","Quaremba G","Tommasini A","Naviglio S","Finocchi A","Attardi E","Cirillo E","Marzollo A","Consolini R","Badolato R","Cicalese MP","Grasso F","Azzari C","D'Alba I","Cancrini C","Martino S"],"additional_accession":[]},"is_claimable":false,"name":"Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.","description":"Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of the genetic basis, they are often difficult to recognize, leading to a significant diagnostic delay (DD). Aim of this study is to define presenting signs and natural history of SCID in a large cohort of patients, prior to hematopoietic stem cell or gene therapies. To this purpose, we conducted a 30-year retro-prospective multicenter study within the Italian Primary Immunodeficiency Network. One hundred eleven patients, diagnosed as typical or atypical SCID according to the European Society for Immune Deficiencies criteria, were included. P","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019","modification":"2025-05-31T22:39:57.172Z","creation":"2025-05-31T22:39:57.172Z"},"accession":"S-EPMC6700292","cross_references":{"pubmed":["31456805"],"doi":["10.3389/fimmu.2019.01908"]}}