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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
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[Common variable immunodeficiency disorders: Updated diagnostic criteria and genetics].

C Fieschi1, J-F Viallard2

  • 1Département d'immunologie, Assistance Publique hôpitaux de Paris (AP-HP), Université de Paris, Paris, France; Inserm U976, institut de recherche Saint-Louis, hôpital Saint-Louis, centre constitutif déficit immunitaire chez l'adulte, CEREDIH, Paris, France.

La Revue De Medecine Interne
|April 20, 2021
PubMed
Summary
This summary is machine-generated.

Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder in adults. Genetic identification aids targeted treatments for autoimmune complications and guides genetic counseling for affected families.

Keywords:
CTLA-4Common Variable Immunodeficiency DisordersDéficit immunitaire commun variableHypogammaglobulinemiaHypogammaglobulinémieLRBANext generation sequencingSéquençage de nouvelle génération

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Area of Science:

  • Immunology
  • Genetics
  • Internal Medicine

Background:

  • Common variable immunodeficiency (CVID) is a heterogeneous group of disorders characterized by hypogammaglobulinemia.
  • CVID is the most frequent symptomatic primary immunodeficiency in adults, presenting with two distinct clinical forms: infection-predominant and non-infectious manifestations.
  • Non-infectious complications include autoimmune, inflammatory, granulomatous, and lymphoproliferative disorders, often managed within Internal Medicine.

Purpose of the Study:

  • To review the updated international diagnostic criteria for CVID (2016).
  • To highlight the impact of recent genetic sequencing techniques on defining CVID.
  • To discuss the implications of identifying genetic causes for targeted therapies and genetic counseling.

Main Methods:

  • Review of the international diagnostic criteria for CVID.
  • Discussion of advancements in genetic sequencing for CVID diagnosis.
  • Analysis of the clinical implications of genetic identification in CVID management.

Main Results:

  • Updated diagnostic criteria for CVID were established in 2016.
  • Advanced sequencing techniques allow for better genetic definition of CVID cases.
  • Genetic identification enables pathophysiological treatment of autoimmune and lymphoproliferative complications.

Conclusions:

  • Identifying the genetic basis of CVID facilitates targeted treatments for specific complications.
  • Genetic diagnosis is crucial for providing appropriate genetic counseling and monitoring at-risk individuals.
  • Understanding the genetic landscape of CVID improves patient management and familial surveillance.