Ontology highlight
ABSTRACT:
SUBMITTER: Cirillo E
PROVIDER: S-EPMC6700292 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Cirillo Emilia E Cancrini Caterina C Azzari Chiara C Martino Silvana S Martire Baldassarre B Pession Andrea A Tommasini Alberto A Naviglio Samuele S Finocchi Andrea A Consolini Rita R Pierani Paolo P D'Alba Irene I Putti Maria Caterina MC Marzollo Antonio A Giardino Giuliana G Prencipe Rosaria R Esposito Federica F Grasso Fiorentino F Scarselli Alessia A Di Matteo Gigliola G Attardi Enrico E Ricci Silvia S Montin Davide D Specchia Fernando F Barzaghi Federica F Cicalese Maria Pia MP Quaremba Giuseppe G Lougaris Vassilios V Giliani Silvia S Locatelli Franco F Rossi Paolo P Aiuti Alessandro A Badolato Raffaele R Plebani Alessandro A Pignata Claudio C
Frontiers in immunology 20190813
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 ...[more]