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Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
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Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing.

Ran Li1, Yali Zheng1, Yuqian Li1

  • 1Department of Respiratory and Critical Care Medicine, Peking University People's Hospital, Beijing 100044, China.

Biomed Research International
|October 27, 2018
PubMed
Summary

Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency disorder. Genetic analysis using whole exome sequencing (WES) identified monogenic causes in two patients and a complex form in another, aiding diagnosis.

Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

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Background:

  • Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder (PID) characterized by significant heterogeneity in clinical presentation and genetic basis.
  • Recurrent respiratory infections are the hallmark clinical manifestation of CVID, often accompanied by autoimmune and lymphoproliferative complications.
  • Accurate genetic diagnosis is crucial for effective clinical management of CVID patients.