Immunodeficiency in Vici syndrome: A heterogeneous phenotype

Authors

  • Andrea Finocchi,

    Corresponding author
    1. Division of Immunology and Infectious Disease, University Hospital Department of Pediatrics, University of Rome “Tor Vergata” and Children's Hospital Bambino Gesù, Rome, Italy
    • Unit of Immunology and Infectious Disease, University Hospital Department of Pediatrics, Children Hospital Bambino Gesù, Rome and University of Rome “Tor Vergata”, Piazza Sant'Onofrio, 4 – 00165 Rome, Italy.
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  • Giulia Angelino,

    1. Division of Immunology and Infectious Disease, University Hospital Department of Pediatrics, University of Rome “Tor Vergata” and Children's Hospital Bambino Gesù, Rome, Italy
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  • Nicoletta Cantarutti,

    1. Division of Immunology and Infectious Disease, University Hospital Department of Pediatrics, University of Rome “Tor Vergata” and Children's Hospital Bambino Gesù, Rome, Italy
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  • Maurizio Corbari,

    1. Division of Anesthesiology and Intensive Care, Emergency Department, Children's Hospital Bambino Gesù, Palidoro (Rome), Italy
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  • Elsa Bevivino,

    1. Division of Metabolism, Department of Pediatric Medicine, Children's Hospital Bambino Gesù, Rome, Italy
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  • Simona Cascioli,

    1. Division of Cytometry and B-cell Development, Research Center, Children's Hospital Bambino Gesù, Rome, Italy
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  • Francesco Randisi,

    1. Division of Radiology, Department of Imaging, Children's Hospital Bambino Gesù, Palidoro (Rome), Italy
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  • Enrico Bertini,

    1. Division of Molecular Medicine for Neuromuscular Disease, Department of Neurosciences, Children's Hospital Bambino Gesù, Rome, Italy
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  • Carlo Dionisi-Vici

    1. Division of Metabolism, Department of Pediatric Medicine, Children's Hospital Bambino Gesù, Rome, Italy
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  • How to Cite this Article: Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, Randisi F, Bertini E, Dionisi-Vici C. 2012. Immunodeficiency in Vici syndrome: A heterogeneous phenotype. Am J Med Genet Part A 158A:434–439.

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. © 2011 Wiley Periodicals, Inc.

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