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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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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.
There are three main causes of immunodeficiency...
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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Background and Environment Affect Phenotype02:27

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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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Genetics and clinical phenotypes in common variable immunodeficiency.

Charlotte Cunningham-Rundles1,2,3, Jean-Laurent Casanova4,5,6,7,8, Bertrand Boisson4,5,6

  • 1Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States.

Frontiers in Genetics
|January 26, 2024
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Summary
This summary is machine-generated.

Common variable immunodeficiency (CVID) often involves autoimmune or inflammatory issues, increasing mortality. This study explores if these clinical signs can predict genetic causes in CVID patients, aiding diagnosis.

Keywords:
autoimmunitycancercommon variable immunodeficiencygeneticsgranulomatous diseaselung diseaselymphoma

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by low immunoglobulin levels and recurrent infections.
  • Beyond infections, CVID patients frequently develop autoimmune and autoinflammatory conditions, contributing to increased morbidity and mortality.
  • Identifying genetic underpinnings of CVID is crucial for understanding disease mechanisms and improving patient management.

Purpose of the Study:

  • To investigate the correlation between clinical phenotypes, specifically autoinflammation and autoimmunity, and the likelihood of identifying a monogenic cause in CVID patients.
  • To determine if specific clinical presentations can guide genetic testing strategies for diagnosing CVID.
  • To assess the utility of clinical features in predicting the underlying genetic defect in a large cohort of CVID patients.

Main Methods:

  • Analysis of clinical data and genetic sequencing (Whole Exome Sequencing and Whole Genome Sequencing) from 405 patients diagnosed with CVID.
  • Phenotypic characterization focusing on the presence and type of autoimmune or autoinflammatory manifestations.
  • Correlation of specific clinical phenotypes with the identification of causative mutations and underlying genes.

Main Results:

  • A significant association was observed between the presence of specific autoimmune/autoinflammatory phenotypes and the identification of underlying genetic mutations in CVID.
  • Certain clinical presentations were found to be more indicative of specific monogenic causes of CVID.
  • The study identified key clinical features that can help prioritize genetic investigations in the diagnostic workup of CVID.

Conclusions:

  • Clinical phenotype, particularly autoimmune and autoinflammatory manifestations, can serve as a valuable biomarker to predict the likelihood of identifying a genetic cause in CVID.
  • Integrating clinical assessment with genetic analysis enhances the diagnostic yield for CVID.
  • Understanding these genotype-phenotype correlations is essential for personalized medicine approaches in managing CVID.