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Chediak-Higashi syndrome (CHS) and leukocyte adhesion deficiency (LAD)

vetyoon 2024. 12. 10. 14:16

This is for informational purposes only. For medical advice or diagnosis, consult a professional.
Chediak-Higashi syndrome (CHS) and leukocyte adhesion deficiency (LAD) are both rare inherited disorders that affect the immune system, but they have different underlying causes and clinical manifestations.
Chediak-Higashi syndrome (CHS) is caused by a mutation in the LYST gene, which is responsible for the formation of lysosomes, organelles that break down cellular waste and pathogens. In CHS, lysosomes are abnormally large and dysfunctional, leading to impaired phagocytosis and killing of bacteria.
Clinical features of CHS include:
* Recurrent infections
* Partial albinism
* Neurologic problems
* Bleeding disorders
Leukocyte adhesion deficiency (LAD) is a group of disorders caused by defects in the genes responsible for the production of integrins, proteins that allow white blood cells to adhere to the walls of blood vessels and migrate to sites of infection. In LAD, white blood cells are unable to effectively reach the site of infection, leading to recurrent and severe infections.
Clinical features of LAD include:
* Recurrent bacterial infections
* Delayed wound healing
* Poor wound healing
* Periodontal disease
Here is a table summarizing the key differences between CHS and LAD:


Both CHS and LAD are serious conditions that can lead to life-threatening infections. Early diagnosis and treatment are essential for improving patient outcomes.