title: CHARGE syndrome and common variable immunodeficiency: A case report and review of literature.
authors.affiliation: Department of Pediatric Science and Surgery, Pediatric Hospital "Policlinico-Giovanni XXIII" of Bari, Padova, Italy. baldo.martire@gmail.com.
authors.forename: Baldassarre
authors.initials: B
authors.lastname: Martire
authors.affiliation: Department of Pediatric Science and Surgery, Pediatric Hospital "Policlinico-Giovanni XXIII" of Bari, Padova, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Panza
authors.affiliation: Department of Women's and Children's Health, Clinic of Pediatric Hemato-Oncology, University of Padova, Padova, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Pillon
authors.affiliation: Department of Pediatric Science and Surgery, Pediatric Hospital "Policlinico-Giovanni XXIII" of Bari, Padova, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Delvecchio
mesh_terms: D058747:CHARGE Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003103:Coloboma; D017074:Common Variable Immunodeficiency / Q000150:complications / Q000175:diagnosis*; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D007231:Infant, Newborn; D019651:Plastic Surgery Procedures
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human
keywords: CHARGE syndrome; autoimmune disease; common variable immunodeficiency