Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2012 Feb;158A(2):434-9.
doi: 10.1002/ajmg.a.34244. Epub 2011 Sep 30.

Immunodeficiency in Vici syndrome: a heterogeneous phenotype

Andrea Finocchi  1 , Giulia Angelino, Nicoletta Cantarutti, Maurizio Corbari, Elsa Bevivino, Simona Cascioli, Francesco Randisi, Enrico Bertini, Carlo Dionisi-Vici
Affiliations
Case Reports

Immunodeficiency in Vici syndrome: a heterogeneous phenotype

Andrea Finocchi et al. Am J Med Genet A. 2012 Feb.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism.
    Miki M, Miyamoto M, Mitsutsuji T, Watanabe H, Shimizu K, Matsuo J, Tonari M, Kida T, Sugasawa J, Ikeda T. Miki M, et al. Case Rep Ophthalmol. 2016 May 10;7(1):268-73. doi: 10.1159/000446102. eCollection 2016 Jan-Apr. Case Rep Ophthalmol. 2016. PMID: 27462254 Free PMC article.
  • Autophagy is essential for hearing in mice.
    Fujimoto C, Iwasaki S, Urata S, Morishita H, Sakamaki Y, Fujioka M, Kondo K, Mizushima N, Yamasoba T. Fujimoto C, et al. Cell Death Dis. 2017 May 11;8(5):e2780. doi: 10.1038/cddis.2017.194. Cell Death Dis. 2017. PMID: 28492547 Free PMC article.
  • Vici syndrome: a review.
    Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Byrne S, et al. Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. Orphanet J Rare Dis. 2016. PMID: 26927810 Free PMC article. Review.
  • Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
    Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Cullup T, et al. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222957 Free PMC article.
  • EPG5 Compound Heterozygous Unreported Pathogenic Variants in a Mexican Patient with Vici Syndrome.
    Rodríguez-Morales M, Liquidano-Perez E, Garza-Mayén G, Bustamante-Montes LP, Villarroel-Cortés C. Rodríguez-Morales M, et al. J Clin Immunol. 2022 Jul;42(5):952-954. doi: 10.1007/s10875-022-01266-w. Epub 2022 Apr 7. J Clin Immunol. 2022. PMID: 35389122 No abstract available.
See all "Cited by" articles

Publication types

MeSH terms

Substances

Supplementary concepts

LinkOut - more resources