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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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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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CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.

Shubham Goel1, Hye Sun Kuehn1, Javier Chinen2

  • 1Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, MD, Bethesda, USA.

Journal of Clinical Immunology
|November 18, 2021
PubMed
Summary

CARD9 deficiency increases fungal infection susceptibility. This study shows CARD9 gene dosage impacts immune cell function, affecting T and B cell responses and potentially contributing to disease phenotypes.

Keywords:
B cells, Th17BCL10CARD9CBM complexCandidaMALT1MAPK signalingT cellsTRIM62fungal infectionhuman immunologyinflammatory bowel diseasemouse immunology

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Area of Science:

  • Immunology
  • Genetics

Background:

  • CARD9 deficiency causes primary immunodeficiency, leading to fungal infections.
  • A rare CARD9 variant (c.1434+1G>C) has been linked to protection from inflammatory bowel disease.

Purpose of the Study:

  • Investigate the impact of homozygous CARD9 variants (c.1434+1G>C) in siblings.
  • Analyze CARD9 gene dosage effects on immune cell function.

Main Methods:

  • Studied two siblings with homozygous CARD9 variants and their heterozygous parents.
  • Analyzed CARD9 transcript variants, protein expression, and CBM complex formation.
  • Assessed immune cell functions (cytokine generation, MAPK activation, T/B cell differentiation) across different CARD9 gene dosage conditions.

Main Results:

  • Homozygous CARD9 variants produced non-functional transcripts (CARD9Δex.11 and CARD9Δ18 nt.), impairing CBM complex formation.
  • CARD9 expression was detected in human and mouse lymphocytes and monocytes.
  • Gene dosage of CARD9 differentially impacted lymphocyte and monocyte functions, including cytokine production and B cell differentiation.

Conclusions:

  • CARD9 exon 11 integrity is essential for CBM complex function.
  • CARD9 expression influences T and B cell functions in a gene dosage-dependent manner.
  • CARD9 gene dosage may contribute to the clinical presentation of CARD9 deficiency.