Chediak Higashi Syndrome Flashcards
(3 cards)
1
Q
Chediak Higashi Syndrome
A
- Autosomal Recessive
- Defect in NG chemotaxis + defect in microtubule polymerization
2
Q
Clinical
:
A
- albinism
- Neuropathy
- Recurrent bacterial infection
- Neutropenia
3
Q
Peripheral Blood smear:
A
Giant cytoplasmic granules in leukocytes