What question did this study set out to answer?

This research aims to detail genetic findings and clinical symptoms associated with Chédiak-Higashi syndrome.

March 7, 2026Open Access

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

Key Points

This research aims to detail genetic findings and clinical symptoms associated with Chédiak-Higashi syndrome.
Described clinical manifestations in three patients diagnosed with CHS.
Identified novel splice site variants linked to the syndrome.
Conducted laboratory diagnoses including genetic assessments.
Two novel splice site variants were identified in the patients.
Patients exhibited severe immunodeficiency and recurrent infections.
Clinical manifestations included neurologic dysfunction and mild bleeding tendency.

Abstract

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.

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

Key Points

Abstract

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