Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Check Note
2000/2000
Ver. Summary Created by Modification Content Size Created at Operation
1
Camila Xu
 + 374 word(s) 374 2020-12-15 07:26:23
Hepatic Veno-Occlusive Disease with Immunodeficiency
Edit
Upload a video
This entry is adapted from https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency

Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.

genetic conditions
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Camila Xu
View Times: 144
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents

    1. Introduction

    Children with VODI are prone to recurrent infections caused by certain bacteria, viruses, and fungi. The organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident.

    Many people with VODI live only into childhood, although some affected individuals have lived to early adulthood.

    2. Frequency

    VODI appears to be a rare disorder; approximately 20 affected families have been reported worldwide. Most people diagnosed with the condition have been of Lebanese ancestry. However, the disorder has also been identified in several individuals with other backgrounds in the United States and Italy.

    3. Causes

    VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria).

    Mutations in the SP110 gene prevent cells from making functional SP110 nuclear body protein, which impairs the immune system's ability to fight off infections. It is unclear how a lack of this protein affects blood flow in the liver.

    3.1. The gene associated with Hepatic veno-occlusive disease with immunodeficiency

    • SP110

    4. Inheritance

    This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

    5. Other Names for This Condition

    • familial veno-occlusive disease with immunodeficiency

    • hepatic venoocclusive disease with immunodeficiency

    • veno-occlusive disease and immunodeficiency syndrome

    • VODI

    References

    1. Cliffe ST, Wong M, Taylor PJ, Ruga E, Wilcken B, Lindeman R, Buckley MF,Roscioli T. The first prenatal diagnosis for veno-occlusive disease andimmunodeficiency syndrome, an autosomal recessive condition associated withmutations in SP110. Prenat Diagn. 2007 Jul;27(7):674-6.
    2. Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R,Buckley MF. Mutations in the gene encoding the PML nuclear body protein Sp110 areassociated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet.2006 Jun;38(6):620-2.
    3. Roscioli T, Ziegler JB, Buckley M, Wong M. Hepatic Veno-Occlusive Disease withImmunodeficiency. 2007 Feb 21 [updated 2017 Jan 12]. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1271/
    More
    ©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
    Upload a video for this entry
    Information
    Subjects: Genetics & Heredity
    Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
    Camila Xu
    View Times: 144
    Entry Collection: MedlinePlus
    Revision: 1 time (View History)
    Update Date: 23 Dec 2020
    Table of Contents
      1000/1000
      Hot Most Recent

      Confirm

      Are you sure to Delete?
      Yes No

      Video Upload Options

      Do you have a full video?
      Send video materials Upload full video
      Cite
      If you have any further questions, please contact Encyclopedia Editorial Office.
      Xu, C. Hepatic Veno-Occlusive Disease with Immunodeficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4090 (accessed on 02 June 2023).
      Xu C. Hepatic Veno-Occlusive Disease with Immunodeficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4090. Accessed June 02, 2023.
      Xu, Camila. "Hepatic Veno-Occlusive Disease with Immunodeficiency" Encyclopedia, https://encyclopedia.pub/entry/4090 (accessed June 02, 2023).
      Xu, C. (2020, December 23). Hepatic Veno-Occlusive Disease with Immunodeficiency. In Encyclopedia. https://encyclopedia.pub/entry/4090
      Xu, Camila. "Hepatic Veno-Occlusive Disease with Immunodeficiency." Encyclopedia. Web. 23 December, 2020.
      Feedback
      Top