Chediak Higashi syndrome (CHS) is an autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent infections and a progressive primary neurological disease. Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. While one sibling was born with fair skin and hair and died of hemophagocytic lymphohistiocytosis (HLH) at 5 months of age, the other sibling had dark black hair and skin and developed HLH at the age of 4 years.
Chediak Higashi syndrome ( CHS ) is an autosomal - recessive disorder characterized by oculocutaneous albinism , recurrent infections and a progressive primary neurological disease . Here , we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity . While one sibling was born with fair skin and hair and died of hemophagocytic lymphohistiocytosis ( HLH ) at 5 months of age , the other sibling had dark black hair and skin and developed HLH at the age of 4 years .
Which syndrome is associated with mutations in the LYST gene?
Which syndrome is associated with mutations in the LYST gene ?
Chediak-Higashi syndrome
Chediak-Higashi syndrome Chediak Higashi syndrome