Chédiak-Higashi Syndrome Report
Chédiak-Higashi Syndrome
Chediak-Higashi syndrome, a rare autosomal recessive disorder, manifests as impaired lysis of phagocytized bacteria, resulting in recurrent bacterial respiratory infections, other infections, and oculocutaneous albinism. Neutrophils and various other cells, such as melanocytes and Schwann neural cells, exhibit giant lysosomal granules. Dysfunctional lysosomes fail to merge with phagosomes, leading to abnormal bacterial lysis. This syndrome arises from a mutation in the LYST gene.
1 gene genes analyzed
It is recommended if:
The Chédiak-Higashi Syndrome report is suitable for individuals exhibiting clinical signs, symptoms, or familial suspicion of Chediak-Higashi Syndrome.
List of main conditions:
- Chédiak-Higashi Syndrome
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