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Related Concept Videos

Epigenetic Regulation01:46

Epigenetic Regulation

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Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Epigenetic Regulation01:37

Epigenetic Regulation

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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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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In contrast to passive transport, active transport involves a substance being moved through membranes in a direction against its concentration or electrochemical gradient. There are two types of active transport: primary active transport and secondary active transport. Primary active transport utilizes chemical energy from ATP to drive protein pumps that are embedded in the cell membrane. With energy from ATP, the pumps transport ions against their electrochemical gradients—a direction...
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Vascular plants, which account for over 90% of the Earth’s vegetation, all undergo primary growth—which lengthens roots and shoots. Many land plants, notably woody plants, also undergo secondary growth—which thickens roots and shoots.
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Related Experiment Video

Updated: Feb 1, 2026

Bioengineering Human Microvascular Networks in Immunodeficient Mice
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Epigenetic Deregulation in Human Primary Immunodeficiencies.

Elena Campos-Sanchez1, Jorge Martínez-Cano1, Lucía Del Pino Molina2

  • 1Department of Cell Biology and Immunology, Centro de Biología Molecular Severo Ochoa (CBMSO), CSIC/UAM, Madrid 28049, Spain; These authors contributed equally to this work.

Trends in Immunology
|December 5, 2018
PubMed
Summary

Primary immunodeficiencies (PIDs) involve immune system defects. Epigenetic alterations in PIDs offer potential therapeutic targets due to their reversibility.

Keywords:
ICF1 syndromeKabuki syndromeWolf–Hirschhorn syndromeepigeneticsimmunodeficiencies

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Area of Science:

  • Immunology
  • Genetics
  • Epigenetics

Background:

  • Primary immunodeficiencies (PIDs) arise from genetic defects impacting immune regulation, leading to increased susceptibility to infections, autoimmunity, and cancer.
  • The precise molecular underpinnings of several common PIDs remain incompletely elucidated.
  • Epigenetic regulation is critical for proper immune function, and aberrant epigenetic changes have been observed in various PIDs.

Purpose of the Study:

  • To review recent advancements in understanding epigenetic alterations in specific PIDs.
  • To propose that epigenetic mechanisms may drive certain PIDs.
  • To discuss potential prophylactic and therapeutic strategies targeting these epigenetic modifications.

Main Methods:

  • Literature review of recent mechanistic studies on PIDs and epigenetics.
  • Analysis of identified epigenetic alterations in conditions like immunodeficiency-centromeric-instability-facial-anomalies, Kabuki syndrome, and Wolf-Hirschhorn syndrome.
  • Discussion of the implications of epigenetic reversibility for PID treatment.

Main Results:

  • Epigenetic alterations are implicated in the pathogenesis of various PIDs.
  • Specific PIDs, including immunodeficiency-centromeric-instability-facial-anomalies, Kabuki, and Wolf-Hirschhorn syndromes, exhibit distinct epigenetic changes.
  • The reversible nature of epigenetic modifications presents opportunities for therapeutic intervention.

Conclusions:

  • Epigenetic dysregulation is a significant factor in certain primary immunodeficiencies.
  • Understanding these epigenetic mechanisms could lead to novel therapeutic approaches for PIDs.
  • Targeting reversible epigenetic modifications may offer a promising avenue for PID prophylaxis and treatment.