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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.
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Agouti: A Lethal Allele
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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. 
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Related Experiment Video

Updated: Oct 17, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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X-linked SCID with a rare mutation.

Fatemeh Sadat Mahdavi1, Mohammad Keramatipour2, Sarina Ansari1

  • 1Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|October 12, 2021
PubMed
Summary

Severe combined immunodeficiency (SCID) is a rare genetic disorder affecting T and B cells. Early diagnosis of X-linked SCID is crucial for timely treatment and improved outcomes in infants.

Keywords:
IL2RG geneImmunodeficiencyPrimary immunodeficiency disordersSevere combined immunodeficiencyγc mutation

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiency (SCID) encompasses rare primary immunodeficiency disorders (PIDs) affecting T and B cell development.
  • Caused by genetic mutations, SCID presents with diverse clinical manifestations and can be inherited in autosomal recessive or X-linked patterns.

Purpose of the Study:

  • To highlight the importance of considering PIDs in patients with unexplained symptoms and recurrent infections.
  • To emphasize the need to consider X-linked SCID (X-SCID) in pediatric cases with specific allergic, endocrine, or growth issues.

Main Methods:

  • Case presentation of a 6-year-old male with symptoms including food allergy, recurrent infections, and poor weight gain.
  • Flow cytometry revealed decreased CD4+ T cell subpopulations and central memory CD8+ T cells.
  • Genetic analysis identified a specific mutation in the interleukin 2 receptor gamma chain (IL-2RG) gene, confirming X-linked SCID.

Main Results:

  • The patient exhibited decreased T lymphocyte counts, including naïve and central memory subpopulations.
  • A pathogenic nucleotide substitution in the IL-2RG gene confirmed the diagnosis of X-linked SCID.
  • The patient received prophylactic treatments and was referred for hematopoietic stem cell transplantation.

Conclusions:

  • Primary immunodeficiency disorders (PIDs) should be a key differential diagnosis for unexplained symptoms, infections, and allergic/autoimmune issues.
  • Clinicians must consider X-SCID in children with poor weight gain or unusual allergic/endocrine manifestations, even with normal immunoglobulin or cell counts.
  • Prompt diagnosis and management, including hematopoietic stem cell transplantation, are vital for improving outcomes in SCID patients.