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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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 disorders...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Cell-mediated Immune Responses01:40

Cell-mediated Immune Responses

Overview
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Antigens Involved in Adaptive Immunity01:26

Antigens Involved in Adaptive Immunity

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 reactivity.

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Related Experiment Video

Updated: Jul 8, 2026

Humanized NOD/SCID/IL2rγnull (hu-NSG) Mouse Model for HIV Replication and Latency Studies
07:10

Humanized NOD/SCID/IL2rγnull (hu-NSG) Mouse Model for HIV Replication and Latency Studies

Published on: January 7, 2019

Genetic immunodeficiency diseases.

Melissa Abrams1, Amy Paller

  • 1Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, USA. melissaabrams16@hotmail.com

Advances in Dermatology
|December 28, 2007
PubMed
Summary
This summary is machine-generated.

Genetic immunodeficiency diagnosis and management require a multidisciplinary approach. Advances in genetic understanding, bone marrow transplantation, and gene therapy offer improved outcomes for affected children.

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Chronic, Acute, and Reactivated HIV Infection in Humanized Immunodeficient Mouse Models
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Last Updated: Jul 8, 2026

Humanized NOD/SCID/IL2rγnull (hu-NSG) Mouse Model for HIV Replication and Latency Studies
07:10

Humanized NOD/SCID/IL2rγnull (hu-NSG) Mouse Model for HIV Replication and Latency Studies

Published on: January 7, 2019

Chronic, Acute, and Reactivated HIV Infection in Humanized Immunodeficient Mouse Models
09:54

Chronic, Acute, and Reactivated HIV Infection in Humanized Immunodeficient Mouse Models

Published on: December 3, 2019

Area of Science:

  • Immunology
  • Genetics
  • Dermatology

Background:

  • Genetic immunodeficiencies necessitate a collaborative approach involving primary care physicians, immunologists, and specialists.
  • Dermatologists are crucial for diagnosing immunodeficiencies through recurrent infections or skin abnormalities and managing related complications.

Purpose of the Study:

  • To highlight the multidisciplinary approach in managing genetic immunodeficiencies.
  • To emphasize the role of dermatologists in diagnosis and management.
  • To discuss advancements in treatment modalities.

Main Methods:

  • Review of current diagnostic and therapeutic strategies for genetic immunodeficiencies.
  • Integration of findings from primary care, immunology, and dermatology.
  • Analysis of the impact of bone marrow transplantation and gene therapy.

Main Results:

  • The genetic basis for most immunodeficiencies is now understood, aiding diagnosis and prenatal testing.
  • Bone marrow and stem cell transplantation have proven life-saving for affected children.
  • Gene therapy is emerging as a significant therapeutic option, particularly for severe combined immunodeficiency.

Conclusions:

  • A multidisciplinary strategy is essential for optimal patient care in genetic immunodeficiency.
  • Genetic advancements and novel therapies like gene therapy are transforming the prognosis for these disorders.