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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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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.
There are three main causes of immunodeficiency...
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Primary Lymphoid Organs01:16

Primary Lymphoid Organs

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Primary lymphoid organs are pivotal in the formation, development, and maturation of lymphocytes, the white blood cells that serve as the backbone of our immune system. This crucial function underscores their fundamental role in maintaining our overall health and immunity. The two primary lymphoid organs of prime importance are the red bone marrow and the thymus.
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Development of Immunocompetence01:22

Development of Immunocompetence

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The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
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Secondary Lymphoid Organs01:15

Secondary Lymphoid Organs

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Secondary organs, including lymph nodes, the spleen, and mucosa-associated lymphoid tissue (MALT), work harmoniously to protect us from disease and infection.
The spleen is a vital organ in the lymphatic system, nestled in the upper left side of the abdomen. It is composed of two primary regions: the red pulp and the white pulp, each having distinct functions. The red pulp performs a significant role in blood filtration. It efficiently purges the blood of old or damaged red blood cells and...
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Antigens Involved in Adaptive Immunity01:26

Antigens Involved in Adaptive Immunity

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An antigen is any substance the immune system identifies as foreign and potentially harmful to the body, prompting an immune response. Antigens have two functional properties: immunogenicity and reactivity. Immunogenicity is the ability of an antigen to stimulate a specific immune response. At the same time, reactivity describes the antigen's ability to react with the cells and antibodies produced in response to it.
Complete Antigens
Complete antigens possess both immunogenicity and...
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Cells of the Adaptive Immune Response01:23

Cells of the Adaptive Immune Response

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The T and B lymphocytes of the adaptive immune system develop from common lymphoid progenitor cells in the bone marrow. These progenitors give rise to precursors that eventually develop into both T and B lymphocytes. As these precursors mature, they gain the ability to detect and respond to foreign antigens in the body, a process known as immunocompetence. Additionally, these precursors acquire self-tolerance, a process that ensures they do not react to self-antigens. This intricate system...
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Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
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Update in Primary Immunodeficiencies.

Lucia Leonardi1, Beatrice Rivalta2, Caterina Cancrini2

  • 1Maternal, Infantile and Urological Sciences Department, Sapienza University of Rome, Rome, Italy. lucialeonardi@yahoo.it.

Acta Bio-Medica : Atenei Parmensis
|October 2, 2020
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Summary
This summary is machine-generated.

Primary immunodeficiencies (PIDs) are inherited disorders often presenting beyond infections. Recent genomic studies reveal PIDs frequently cause immune dysregulation, leading to autoimmune diseases, lymphoproliferation, and malignancies, impacting patient prognosis.

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Primary immunodeficiencies (PIDs) are inherited disorders traditionally linked to infection susceptibility.
  • Recent advances in genomic analysis, including next-generation sequencing (NGS), have expanded the understanding of PIDs.
  • Novel genetic disorders associated with PIDs reveal new insights into immune system function and regulation.

Purpose of the Study:

  • To raise awareness of recently identified PIDs.
  • To highlight PIDs characterized by immune dysregulation phenotypes.
  • To broaden the recognized clinical spectrum of PIDs beyond infections.

Main Methods:

  • Genomic analysis (e.g., NGS).
  • Biochemical studies.
  • Cellular studies.
  • Literature review of novel PID cases.

Main Results:

  • PIDs present with a broader range of clinical features than previously understood.
  • Immune dysregulation is a common characteristic of newly defined PIDs.
  • Clinical manifestations include autoimmune diseases, lymphoproliferation, and malignancies.

Conclusions:

  • Early diagnosis of PIDs is crucial for improving patient outcomes.
  • Screening for immunodeficiency is recommended in patients with lymphoproliferation or early-onset/multiple autoimmune diseases.
  • Prompt diagnosis and treatment can lead to more successful clinical management of PIDs.