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Related Concept Videos

The Intrinsic Apoptotic Pathway01:31

The Intrinsic Apoptotic Pathway

Internal cellular stress, such as cellular injury or hypoxia, triggers intrinsic apoptosis. The B-cell lymphoma 2 (Bcl-2) family of proteins are the primary regulators of the intrinsic apoptotic pathway. For example, during DNA damage, checkpoint proteins, such as Ataxia Telangiectasia Mutated (ATM protein) and Checkpoints Factor-2 (Chk2) proteins, are activated. These proteins phosphorylate p53 which further activates pro-apoptotic proteins, such as Bax, Bak, PUMA, and Noxa, and inhibits...
Cellular Injury V: Apoptosis and Autophagy01:22

Cellular Injury V: Apoptosis and Autophagy

Cells respond to damage and stress through highly coordinated processes that decide whether they survive or undergo controlled self-destruction. Two major pathways involved in this regulation are apoptosis, a type of programmed cell death, and autophagy, a survival mechanism that helps cells adapt to adverse conditions.ApoptosisApoptosis removes aged or injured cells to maintain tissue balance. During this process, the cell shrinks, chromatin condenses and fragments, and membrane-bound...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Apoptosis01:30

Apoptosis

Apoptosis is a combination of two Greek words, 'apo' and 'ptosis,' meaning separation and falling off, respectively. Hippocrates used this word to describe gangrene, which was caused due to bandaging of fractured bones. Apoptosis was distinguished from necrosis in 1970 when John Kerr reported observations of morphological changes occurring during apoptosis. During one experiment, he observed that the disruption of blood supply to the liver tissue resulted in a size reduction of the tissue.
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
The Extrinsic Apoptotic Pathway01:17

The Extrinsic Apoptotic Pathway

The extrinsic apoptotic pathway is initiated when extracellular death-inducing signals, such as specific cytokines, activate the death receptors expressed on the cell surface. The immune cells involved in this pathway are natural killer cells (NK cells) and cytotoxic T-lymphocytes. NK cells are critical in innate immune response, while cytotoxic T-lymphocytes are associated with adaptive immune response. These cells recognize specific receptors expressed on the altered cells and activate...

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Assessing Somatic Hypermutation in Ramos B Cells after Overexpression or Knockdown of Specific Genes
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Published on: November 1, 2011

Monogenic defects in lymphocyte apoptosis.

Thomas A Fleisher1, Joao Bosco Oliveira

  • 1NIH Clinical Center, National Institutes of Health, Bethesda, Maryland 20892-1508, USA. tfleishe@mail.nih.gov

Current Opinion in Allergy and Clinical Immunology
|August 25, 2012
PubMed
Summary

Defects in programmed cell death (apoptosis) cause immune disorders like autoimmune lymphoproliferative syndrome. Understanding these genetic defects is key to diagnosing and managing these conditions.

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Last Updated: May 19, 2026

Assessing Somatic Hypermutation in Ramos B Cells after Overexpression or Knockdown of Specific Genes
08:12

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Published on: November 1, 2011

Examination of Thymic Positive and Negative Selection by Flow Cytometry
14:29

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Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
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Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

Area of Science:

  • Immunology
  • Genetics
  • Cell Biology

Background:

  • Apoptosis, or programmed cell death, is crucial for immune homeostasis.
  • Defects in apoptosis regulation can lead to human immune disorders.

Purpose of the Study:

  • To review the immunopathogenesis, clinical features, and diagnostic approaches for human disorders caused by apoptosis defects.
  • To highlight the role of apoptosis in maintaining leukocyte homeostasis.

Main Methods:

  • Review of literature on genetic defects in apoptotic pathways.
  • Analysis of clinical manifestations and diagnostic criteria for related disorders.

Main Results:

  • Identification of disorders linked to defects in the extrinsic apoptotic pathway (FAS-mediated), such as autoimmune lymphoproliferative syndrome.
  • Identification of disorders linked to defects in the intrinsic apoptotic pathway (RAS-mediated), such as RAS-associated autoimmune leukoproliferative disorder.

Conclusions:

  • Genetic defects in apoptotic pathways are critical for leukocyte homeostasis.
  • These defects can manifest as leukocyte expansion, autoimmunity, increased malignancy risk, and impaired host defense.