title: Immunodeficiency in Vici syndrome: a heterogeneous phenotype.
abstract: Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities. Recurrent infections, mainly affecting the respiratory tract, have been reported in the majority of cases, representing an important risk factor for morbidity and mortality. The immunological phenotype of patients is extremely variable, ranging from a combined immunodeficiency to nearly normal immunity. We report on a new patient with Vici syndrome, in whom we have extensively investigated immunological features. Despite a mild impairment of the cellular compartment, a defect of humoral immunity was found, requiring treatment with intravenous immunoglobulin. A wider knowledge of immune system abnormalities of Vici syndrome will help to plan strategies for treatment and prevention of infections, such as immunoglobulin replacement and antimicrobial prophylaxis, resulting in improved survival rates.
authors.affiliation: Division of Immunology and Infectious Disease, University Hospital Department of Pediatrics, University of Rome Tor Vergata and Children's Hospital Bambino Gesù, Rome, Italy. andrea.finocchi@uniroma2.it
authors.forename: Andrea
authors.initials: A
authors.lastname: Finocchi
authors.forename: Giulia
authors.initials: G
authors.lastname: Angelino
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Cantarutti
authors.forename: Maurizio
authors.initials: M
authors.lastname: Corbari
authors.forename: Elsa
authors.initials: E
authors.lastname: Bevivino
authors.forename: Simona
authors.initials: S
authors.lastname: Cascioli
authors.forename: Francesco
authors.initials: F
authors.lastname: Randisi
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi-Vici
mesh_terms: D000361:Agammaglobulinemia / Q000276:immunology* / Q000473:pathology; D061085:Agenesis of Corpus Callosum / Q000188:drug therapy / Q000276:immunology* / Q000473:pathology*; D002386:Cataract / Q000188:drug therapy / Q000276:immunology* / Q000473:pathology*; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology*; D006801:Humans; D056724:Immunity, Humoral / Q000276:immunology*; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000473:pathology*; D008297:Male; D010641:Phenotype
chemical_list: D016756:Immunoglobulins, Intravenous