Chediak-Higashi Syndrome Overview

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Questions and Answers

What is the primary defect in the disorder described?

  • Defective DNA repair mechanisms
  • Aberrant immune cell signaling pathways
  • Defective fusion protein crucial to lysosomal secretion (correct)
  • Malfunctioning mitochondrial enzymes

Which of the following symptoms is NOT typically associated with this disorder?

  • Increased WBC chemotaxis (correct)
  • Giant purple-gray cytoplasmic granules
  • Albinism and photophobia
  • Hepatosplenomegaly

Which clinical feature is most likely to develop in affected children?

  • Thyroid dysfunction
  • Chronic respiratory infections
  • Hypertension
  • Liver failure (correct)

What type of disorder is described here?

<p>Autosomal recessive (D)</p> Signup and view all the answers

How does this disorder affect white blood cell function?

<p>Reduces chemotaxis and bactericidal function (A)</p> Signup and view all the answers

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Study Notes

Chediak-Higashi Syndrome

  • Rare, inherited disorder affecting neutrophilic granules.
  • Caused by a defect in the LYST gene, impacting lysosomal trafficking.
  • Characterized by abnormally large, purple-gray granules in neutrophils and other cells.
  • Impaired white blood cell chemotaxis and reduced bactericidal activity.
  • Hepatosplenomegaly (enlarged liver and spleen) and potential liver failure can occur.
  • Patients often exhibit albinism (lack of melanin) and photophobia (light sensitivity).

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