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Related Concept Videos

Immunodeficiency Diseases01:25

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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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The cytoplasm of adjacent animal cells can exchange small molecules, ions, and secondary messengers via the communication channels which form the gap junctions. These junctions comprise a few hundred to thousands of molecular channels, each made of two halves, called the connexon hemichannel. A connexon is a hexamer of six transmembrane connexin proteins, which assemble radially, thus forming a pore or channel in the center. One connexon hemichannel docks with a corresponding connexon on the...
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Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems
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Liver Disease in Common Variable Immunodeficiency: Current Evidence and Knowledge Gaps.

Irena Nedelea1,2, Oana Nicoara-Farcau3,4, Bogdan Procopet3,4

  • 1Allergy and Immunology Discipline, Iuliu Hațieganu University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.

International Journal of Molecular Sciences
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Common variable immunodeficiency (CVID) causes diverse health issues, including challenging liver disease. Early recognition and multidisciplinary care are crucial for managing CVID

Keywords:
common variable immunodeficiencyliver diseaseporto-sinusoidal vascular disorder

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Area of Science:

  • Immunology and Hepatology
  • Inborn Errors of Immunity (IEI)
  • Gastroenterology

Background:

  • Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency, presenting a wide clinical spectrum.
  • CVID-associated liver disease is a significant cause of morbidity, often clinically silent until complications arise.
  • Existing classifications of CVID phenotypes are better viewed as a continuous spectrum.

Purpose of the Study:

  • To consolidate current knowledge on CVID-related liver disease.
  • To examine clinical presentation, genetic and pathogenetic advancements, diagnostic methods, and therapeutic strategies.
  • To emphasize the need for heightened awareness among multidisciplinary teams and broader medical specialties.

Main Methods:

  • Review and synthesis of existing literature on CVID-associated liver disease.
  • Analysis of clinical presentations, including abnormal liver tests and irreversible organ damage.
  • Discussion of histopathological findings such as granulomas, autoimmune hepatitis, fibrosis, and porto-sinusoidal vascular disorder (PSVD).

Main Results:

  • CVID liver disease manifestations range from abnormal liver tests to severe damage like fibrosis and PSVD.
  • Regenerative nodular hyperplasia (RNH), often linked to PSVD, is a common histopathological finding.
  • Management involves multidisciplinary approaches, including immunosuppression and supportive care for portal hypertension.

Conclusions:

  • Significant gaps remain in understanding CVID liver disease pathogenesis, optimal management, and outcome correlations.
  • Early recognition and diagnosis of CVID-associated liver disease are critical due to its insidious nature and potential for underdiagnosis.
  • A multidisciplinary approach and increased awareness across specialties are paramount for improving patient outcomes.