Chediak-Higashi syndrome
High Yield Notes
5 pages
Flashcards
Chediak-Higashi syndrome
of complete
Memory Anchors and Partner Content
Summary
Chediak-Higashi syndrome is a rare, autosomal recessive genetic disorder in which a lysosomal trafficking regulator protein mutation leads to a decrease in phagocytosis. This predisposes individuals to recurrent pyogenic infections. People with Chediak-Higashi syndrome also have partial albinism and peripheral neuropathy. They can present with light skin color and hair that is blond, golden brown, or white. Other symptoms include poor vision and hearing, easy bruising and bleeding, and a heightened sensitivity to cold.
For Institutions
Copyright © 2024 Elsevier, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
Cookies are used by this site.
USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.
