Submitted Successfully!
Thank you for your contribution! You can also upload a video entry related to this topic through the link below:
https://encyclopedia.pub/user/video_add?id=4192
Check Note
2000/2000
Ver. Summary Created by Modification Content Size Created at Operation
1 + 395 word(s) 395 2020-12-15 07:28:21
JAK3-Deficient Severe Combined Immunodeficiency
Edit
Upload a video

JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people.

genetic conditions
Information
Contributor :
View Times: 48
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Time: 23 Dec 2020

1. Introduction

Affected SCID infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood.

2. Frequency

JAK3-deficient SCID accounts for an estimated 7 to 14 percent of cases of SCID. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000, although it may be higher in certain regions.

3. Causes

JAK3-deficient SCID is caused by mutations in the JAK3 gene. The protein produced from this gene helps regulate the growth and maturation of certain types of white blood cells (lymphocytes) called T cells and natural killer cells. In addition, the JAK3 protein is important for the normal maturation of another type of lymphocyte called B cells. T cells, B cells, and natural killer cells attack bacteria, viruses, and fungi, and help regulate the entire immune system.

Mutations in the JAK3 gene prevent the production of JAK3 protein or lead to production of a nonfunctional protein. A loss of functional JAK3 protein results in the absence of T cells and natural killer cells and a normal number of poorly functioning B cells. This shortage of functional lymphocytes causes people with JAK3-deficient SCID to be susceptible to infections.

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

  • autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe combined immunodeficiency

  • autosomal recessive T-B+NK- SCID

  • JAK3 SCID

  • T cell-negative, B cell-positive, NK cell-negative SCID

  • T-B+ severe combined immunodeficiency due to JAK3 deficiency

References

  1. Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T,Vihinen M, Schumacher RF. Mutations in severe combined immune deficiency (SCID)due to JAK3 deficiency. Hum Mutat. 2001 Oct;18(4):255-63. Review.
  2. O'Shea JJ, Husa M, Li D, Hofmann SR, Watford W, Roberts JL, Buckley RH,Changelian P, Candotti F. Jak3 and the pathogenesis of severe combinedimmunodeficiency. Mol Immunol. 2004 Jul;41(6-7):727-37. Review.
  3. Pesu M, Candotti F, Husa M, Hofmann SR, Notarangelo LD, O'Shea JJ. Jak3,severe combined immunodeficiency, and a new class of immunosuppressive drugs.Immunol Rev. 2005 Feb;203:127-42. Review.
  4. Vihinen M, Villa A, Mella P, Schumacher RF, Savoldi G, O'Shea JJ, Candotti F, Notarangelo LD. Molecular modeling of the Jak3 kinase domains and structuralbasis for severe combined immunodeficiency. Clin Immunol. 2000 Aug;96(2):108-18.
More
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
View Times: 48
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Time: 23 Dec 2020
Table of Contents
    1000/1000

    Confirm

    Are you sure to Delete?

    Video Upload Options

    Do you have a full video?
    Cite
    If you have any further questions, please contact Encyclopedia Editorial Office.
    Xu, C. JAK3-Deficient Severe Combined Immunodeficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4192 (accessed on 05 October 2022).
    Xu C. JAK3-Deficient Severe Combined Immunodeficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4192. Accessed October 05, 2022.
    Xu, Camila. "JAK3-Deficient Severe Combined Immunodeficiency," Encyclopedia, https://encyclopedia.pub/entry/4192 (accessed October 05, 2022).
    Xu, C. (2020, December 23). JAK3-Deficient Severe Combined Immunodeficiency. In Encyclopedia. https://encyclopedia.pub/entry/4192
    Xu, Camila. ''JAK3-Deficient Severe Combined Immunodeficiency.'' Encyclopedia. Web. 23 December, 2020.
    Top
    Feedback