Sistema Gastrointestinal e Digestivo

Abstrato

Chediak-Higashi Syndrome with Novel Gene Mutation

Mostafa Helmi Abdulaziz

Chediak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. This syndrome is caused by mutations in the CHS1/LYST gene located on chromosome 1. It leads to abnormal intracellular protein transport and alters lysosomes granules function and morphology. Herein, we report a case of CHS. This two-and-half-years-old boy presented with pneumonia. Genetic evaluation revealed novel mutations in the CHS1 gene: c.6159_6160del (p.Met2053Ilefs*31) variant, which has not previously described in any literature. To date less than 75 mutations have been described for this syndrome. This case is reported for its novel mutation and absent accelerated phase to date. Awareness, early recognition, and management of the condition may prevent the preterm morbidity associated.