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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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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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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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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 Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Inherited Human BCL10 Deficiencies.

Ashwag A Alsaidalani1, Blanca García-Solís2,3,4, Esraa Bukhari1

  • 1Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, 22252, Jeddah, Saudi Arabia.

Journal of Clinical Immunology
|December 22, 2023
PubMed
Summary

Human BCL10 deficiency causes severe combined immunodeficiency. This summary details a novel mutation in a fifth patient, emphasizing the need for early diagnosis and management of this rare genetic disorder.

Keywords:
BCL10Primary immunodeficiencycombined immunodeficiencyinborn errors of immunity

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • BCL10 deficiency is a rare genetic disorder leading to severe combined immunodeficiency (SCID).
  • It necessitates hematopoietic stem cell transplantation for curative treatment.
  • Four homozygous mutations have been previously reported in unrelated patients.

Observation:

  • A fifth patient with a novel BCL10 mutation is presented.
  • This case expands the known spectrum of genetic defects causing BCL10 deficiency.

Findings:

  • The study details the clinical and immunological characteristics of this novel BCL10 deficiency case.
  • Analysis of the new mutation contributes to understanding genotype-phenotype correlations.

Implications:

  • Early diagnosis of BCL10 deficiency is crucial for timely intervention.
  • Comprehensive knowledge of BCL10 deficiency aids in effective clinical management strategies.
  • Further research into BCL10's role in immunity may reveal therapeutic targets.