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Questions and Answers
What is the primary defect in the disorder described?
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?
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?
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?
What type of disorder is described here?
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How does this disorder affect white blood cell function?
How does this disorder affect white blood cell function?
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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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Description
Explore the key features of Chediak-Higashi Syndrome, a rare inherited disorder affecting neutrophils. Learn about its genetic causes, symptoms, and the implications for patients, including albinism and potential liver issues. This quiz covers the essential aspects of this condition and its impact on the immune system.
