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Related Concept Videos

NF-κB-dependent Signaling Pathway02:26

NF-κB-dependent Signaling Pathway

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The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
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Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
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Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
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When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
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Related Experiment Video

Updated: Aug 21, 2025

A Guide to Production, Crystallization, and Structure Determination of Human IKK1/&#945;
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A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.

Keith Sacco1,2, Hye Sun Kuehn3, Tomoki Kawai4

  • 1Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH, 10 Center Dr, Rm 5-3840W, Bethesda, MD, 20914, USA. keith.sacco@nih.gov.

Journal of Clinical Immunology
|November 15, 2022
PubMed
Summary

A novel gain-of-function (GOF) variant in IKBKB was identified in an infant with severe autoimmune cytopenias and autoinflammation, revealing a new clinical phenotype.

Keywords:
AutoimmunityAutoinflammationInborn error of ImmunityNF-κB signalingPrimary immunodeficiencyT cell lymphopenia

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Biallelic loss-of-function variants in Inhibitor of kappa light polypeptide gene-enhancer in B-cells kinase beta (IKBKB) are known to cause severe combined immunodeficiency.
  • Gain-of-function (GOF) variants in IKBKB have not been extensively studied in the context of immune dysregulation.

Conclusions:

  • A GOF variant in IKBKB is associated with a novel clinical phenotype of autoinflammation and autoimmunity.
  • This finding expands the known spectrum of IKBKB-related immune disorders.