Three Patients with Chediak-Higashi Syndrome: Genetic Findings of Two Novel Splice Site Variants and Clinical Manifestations

Chédiak-Higashi syndrome (CHS; MIM #214500) is a rare autosomal recessive disorder characterized by severe immunodeficiency, reduced pigmentation, recurrent infections, mild bleeding tendency and progressive neurologic dysfunction. Unless patients undergo successful hematopoietic cell transplantation (HCT), a majority of them die during childhood because of an accelerated phase of immune dysfunction and hemophagocytic lymphohistiocytosis (HLH). Herein, we aim to describe the laboratory diagnosis, clinical manifestations, and genetic findings in three patients with CHS.