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NBME 16 Answers

nbme16/Block 2/Question#27 (reveal difficulty score)
A 4-month-old boy is brought to the physician ...
Chediak-Higashi syndrome ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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submitted by โˆ—cassdawg(1780)
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Giant granules in neutrophils and eosinophils combined with immunodeficiency (recurrent infections) and partial albinism is characteristic for Chediak-Higashi which is caused by defect in the lysosomal trafficking regulator gene [FA2020 p116]

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fanderina  but why is the rough ER dilated? +1
kaymin1234  Due to a trafficking defect, the proteins in the rER can't go to the golgi, so increased protein in the rER will dilate it. +



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