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The Intrinsic Apoptotic Pathway

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 Autophagy

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...

Apoptosis

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.

The Extrinsic Apoptotic Pathway

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...

Caspases

Caspases

Caspase, a family of cysteine proteases, serve as effectors in apoptosis. The ced3 gene in C.elegans was first identified to be involved in apoptosis. This gene encodes the ced-3 caspase that is similar to the interleukin-1-beta converting enzyme or ICE in mammals. In addition to apoptosis, caspases also function in the inflammatory response. Inflammatory caspases are essential in activating pro-inflammatory cytokines that recruit immune cells and block the replication of pathogens inside cells.

Cells of the Innate Immune Response

Cells of the Innate Immune Response

The innate immune response is an immediate and non-specific response against pathogens, acting swiftly to prevent the spread of infections. The primary cells involved in this response are phagocytes and natural killer (NK) cells.
Phagocytes
Phagocytes police the peripheral tissues by removing cellular debris and responding to the invasion of foreign substances or pathogens. Many phagocytes attack and remove microorganisms even before lymphocytes detect them. The human body has two general...

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Related Experiment Video

Updated: Jun 19, 2026

Evaluation of Caspase Activation to Assess Innate Immune Cell Death

Evaluation of Caspase Activation to Assess Innate Immune Cell Death

Published on: January 20, 2023

Inborn Errors of Immunity in Apoptosis.

Nadia Makkoukdji¹, Travis Satnarine¹, Alana Xavier de Almeida¹

¹Department of Pediatrics, Jackson Memorial Hospital, Miami, FL 33136, USA.

Frontiers in Bioscience (Landmark Edition)

|June 4, 2025

Summary

Inborn errors of immunity (IEIs) disrupt immune balance. Impaired apoptosis in these disorders leads to lymphocyte accumulation, autoimmunity, and increased cancer risk, offering insights into immune dysregulation.

Keywords:

X-linked lymphoproliferative disease (XLP)apoptosis autoimmune lymphoproliferative syndrome (ALPS)inborn errors of immunity (IEI)primary immune deficiency (PID)

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Evaluation of Caspase Activation to Assess Innate Immune Cell Death

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Strategies for Tracking Anastasis, A Cell Survival Phenomenon that Reverses Apoptosis

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Experimental Analysis of Apoptotic Thymocyte Engulfment by Macrophages

Experimental Analysis of Apoptotic Thymocyte Engulfment by Macrophages

Published on: May 24, 2019

Area of Science:

Immunology
Genetics
Molecular Biology

Background:

Inborn errors of immunity (IEIs) encompass over 485 disorders affecting immune development and function.
Primary immune regulatory disorders (PIRDs) are a subset of IEIs characterized by infection susceptibility, autoimmunity, and malignancy.
Programmed cell death (apoptosis) is vital for lymphocyte homeostasis.

Purpose of the Study:

To review the intersection of apoptosis, autoimmunity, and lymphoproliferation in immune disorders.
To discuss how dysregulation of these processes contributes to disease development.
To highlight insights into immune dysregulation mechanisms.

Main Methods:

Literature review focusing on genetic identification of inherited diseases with impaired apoptosis.
Analysis of molecular pathogenesis in conditions like ALPS, CEDS, XLP, and JAK/STAT pathway disorders.
Examination of signaling pathways regulating apoptosis and lymphocyte activation.

Main Results:

Impaired apoptosis in inherited diseases leads to abnormal lymphocyte accumulation.
Clinical manifestations include lymphadenopathy, hepatomegaly, splenomegaly, and lymphoma risk.
Associated autoimmune diseases, particularly hematologic, are common.

Conclusions:

Dysregulated apoptosis, autoimmunity, and lymphoproliferation characterize these immune disorders.
Understanding molecular pathogenesis provides insights into lymphocyte activation and immune regulation.
These insights are crucial for developing targeted therapies for IEIs.