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

World Allergy Organization Journal 2026 Open access

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Authors: Shaghayegh Tajik, Zahra Alizadeh, Anne Marie Molitor, Mohammad Reza Fazlollahi, Raphaël Carapito, Maryam Akbari, Mohsen Badalzadeh, Massoud Houshmand, Mostafa Moin, Seiamak Bahram, Zahra Pourpak
DOI: 10.1016/j.waojou.2026.101277
Cited by: 0

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.

Fields of Study & Subjects

Immunodeficiency and Autoimmune Disorders Autoimmune and Inflammatory Disorders Research Blood disorders and treatments

Publication details

Journal / source
World Allergy Organization Journal
Volume
19
Issue
2
Pages
101277–101277
Publication date
1 February 2026
Language
EN