title: Bcgitis and vaccine-derived poliovirus infection in a patient with a novel deletion in RAG1 binding site.
abstract: A girl who developed severe BCGitis and vaccine-derived poliovirus infection was discovered to have a novel deletion of RAG1. A neonatal screening program for SCID would identify affected infants at birth, before live vaccines are administered.
authors.affiliation: Immunology Department, Anna Meyer Childrens Hospital, Florence, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Canessa
authors.forename: F
authors.initials: F
authors.lastname: Romano
authors.forename: F
authors.initials: F
authors.lastname: Lippi
authors.forename: L
authors.initials: L
authors.lastname: Bianchi
authors.forename: S
authors.initials: S
authors.lastname: Kashef
authors.forename: N
authors.initials: N
authors.lastname: Rezaei
authors.forename: M
authors.initials: M
authors.lastname: Moriondo
authors.forename: F
authors.initials: F
authors.lastname: Nieddu
authors.forename: M
authors.initials: M
authors.lastname: Martini
authors.forename: C
authors.initials: C
authors.lastname: Azzari
mesh_terms: D000995:Antitubercular Agents / Q000627:therapeutic use; D000998:Antiviral Agents / Q000627:therapeutic use; D001500:BCG Vaccine / Q000008:administration & dosage / Q000009:adverse effects*; D001483:Base Sequence; D001665:Binding Sites; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007115:Immunization Schedule; D016867:Immunocompromised Host / Q000235:genetics*; D007223:Infant; D008969:Molecular Sequence Data; D010641:Phenotype; D011051:Poliomyelitis / Q000139:chemically induced* / Q000188:drug therapy / Q000276:immunology; D011055:Poliovirus Vaccine, Oral / Q000008:administration & dosage / Q000009:adverse effects*; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D014388:Tuberculosis, Lymph Node / Q000139:chemically induced* / Q000188:drug therapy / Q000276:immunology; D014397:Tuberculosis, Pulmonary / Q000139:chemically induced* / Q000188:drug therapy / Q000276:immunology
chemical_list: D000995:Antitubercular Agents; D000998:Antiviral Agents; D001500:BCG Vaccine; D018398:Homeodomain Proteins; D011055:Poliovirus Vaccine, Oral; C064658:RAG-1 protein