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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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