Immunodeficiency in Vici syndrome: A heterogeneous phenotype

Andrea Finocchi, Giulia Angelino, Nicoletta Cantarutti, Maurizio Corbari, Elsa Bevivino, Simona Cascioli, Francesco Randisi, Enrico Bertini, Carlo Dionisi-Vici

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)434-439
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number2
DOIs
Publication statusPublished - Feb 2012

Keywords

  • Agenesis of the corpus callosum
  • Hypogammaglobulinemia
  • Immunodeficiency
  • Intravenous immunoglobulin (IVIG)
  • Recurrent infections
  • Vici syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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