Immunodeficiency in Vici syndrome: a heterogeneous phenotype

Am J Med Genet A. 2012 Feb;158A(2):434-9. doi: 10.1002/ajmg.a.34244. Epub 2011 Sep 30.


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.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinemia / immunology*
  • Agammaglobulinemia / pathology
  • Agenesis of Corpus Callosum / drug therapy
  • Agenesis of Corpus Callosum / immunology*
  • Agenesis of Corpus Callosum / pathology*
  • Cataract / drug therapy
  • Cataract / immunology*
  • Cataract / pathology*
  • Child, Preschool
  • Corpus Callosum / pathology*
  • Humans
  • Immunity, Humoral / immunology*
  • Immunoglobulins, Intravenous / therapeutic use
  • Immunologic Deficiency Syndromes / pathology*
  • Male
  • Phenotype


  • Immunoglobulins, Intravenous

Supplementary concepts

  • Absent corpus callosum cataract immunodeficiency