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Chediak-Higashi syndrome

Summary of Chediak-Higashi syndrome
Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, partial albinism, and peripheral neuropathy.

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Chediak-Higashi syndrome

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High Yield Notes
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Chediak-Higashi syndrome

11 flashcards
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is a neurological manifestation of Chediak-Higashi syndrome due to defective protein trafficking causing atrophy of the nerve terminals.

Questions

USMLE® Step 1 style questions USMLE

3 questions

USMLE® Step 2 style questions USMLE

1 questions
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A 12-year-old girl comes to the pediatrician’s office because of a recently diagnosed streptococcal infection. She has a history of repeated bouts of staphylococcal and streptococcal infections throughout her life, for which she had been prescribed antibiotics each time. Physical examination shows features similar to defective melanin synthesis. Which of the following immune deficiencies is most likely present in this patient?