Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

Abstract excerpt

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder in which an immune deficiency occurs in association with pigmentation abnormalities. Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, though some patients with CHS have a relatively milder clinical course of the disease. The large size of the LYST gene, defective in CHS, has made it difficult...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Acute Lymphoblastic Leukemia research
• Share to Autoimmune and Inflammatory Disorders Research
• Share to Immunodeficiency and Autoimmune Disorders