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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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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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Generalized Anxiety Disorder01:30

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Generalized Anxiety Disorder (GAD) is a chronic condition characterized by excessive and uncontrollable worry that persists for at least six months, significantly interfering with daily functioning. Unlike situational anxiety, which arises in response to specific stressors, GAD often occurs without a clear cause. Individuals may experience disproportionate worry about work, health, or relationships. For instance, a person might continuously fear poor health despite normal medical evaluations or...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Activation and Inactivation of G Proteins01:22

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Heterotrimeric G proteins are guanine nucleotide-binding proteins. As the name suggests, heterotrimeric G proteins are composed of three subunits: alpha, beta, and gamma. They remain GDP-bound or GTP-bound inside the cells and switch between inactive/active states. The Gα subunit possesses the nucleotide-binding pocket that binds guanine nucleotides and switches between GDP or GTP-bound states. In contrast, the Gꞵ and Gγ subunits are always bound together with high...
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Diseases of the Liver and Gallbladder01:26

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Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
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Type IV Collagen of Basal Lamina01:05

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Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
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Related Experiment Video

Updated: Feb 25, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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[IgG4-RELATED DISEASE].

Elisheva Pokroy-Shapira1, Yair Molad1

  • 1Rheumatology Unit, Rabin Medical Center, Beilinson Campus, Petah Tikva.

Harefuah
|August 9, 2017
PubMed
Summary

Immunoglobulin G4-related disease (IgG4-RD) affects any organ and is treated with corticosteroids or immunosuppressants. This review covers IgG4-RD pathogenesis, diagnosis, and treatment strategies.

Area of Science:

  • Rheumatology
  • Immunology
  • Pathology

Background:

  • IgG4-related disease (IgG4-RD) is a systemic condition of unknown cause.
  • It presents with lymphoplasmacytic infiltration, IgG4-positive plasma cells, fibrosis, and elevated IgG4 levels.
  • Organ involvement and severity dictate treatment approaches.

Purpose of the Study:

  • To review the current understanding of IgG4-related disease.
  • To cover pathogenesis, clinical features, diagnosis, and treatment.

Main Methods:

  • Literature review of IgG4-related disease.
  • Synthesis of current knowledge on pathogenesis, diagnosis, and treatment.

Main Results:

  • Corticosteroids are the primary treatment for IgG4-RD.

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  • Immunosuppressants and rituximab are options for refractory or recurrent cases, though clinical trial evidence is limited.

    • Conclusions:

    • Accurate diagnosis and tailored treatment are crucial for managing IgG4-related disease.
    • Further research is needed to establish definitive treatment guidelines for steroid-resistant cases.