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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 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.
There are three main causes of immunodeficiency...
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Poikiloderma With Neutropenia due to Novel USB1 Mutation.

Kerem Balan1, Basak Yalici-Armagan1, Neslihan Akdogan1

  • 1Department of Dermatology and Venereology, School of Medicine, Hacettepe University, Ankara, Turkey.

Pediatric Dermatology
|April 28, 2025
PubMed
Summary

Poikiloderma with neutropenia (PN) is a rare genetic disorder affecting skin and immune function. This case highlights a novel USB1 gene mutation, expanding understanding of PN's clinical spectrum.

Area of Science:

  • Genetics
  • Immunology
  • Dermatology

Background:

  • Poikiloderma with neutropenia (PN) is a rare autosomal recessive disorder.
Keywords:
acitretincalcinosis cutishypogonadismneutropeniapoikiloderma

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  • Characterized by skin abnormalities, chronic neutropenia, and increased risk of infections and malignancies.
  • Caused by pathogenic variants in the USB1 gene, impacting neutrophil function and immune response.