CASE REPORT article
Front. Hematol.
Sec. Blood Cancer
This article is part of the Research TopicDecoding Syndromic Immunodeficiencies: Bridging Genetics and Immune DysfunctionsView all 8 articles
A Converging Pathology: Chediak-Higashi Syndrome and IEI-Associated Lymphoproliferative Disease. Case Report
Provisionally accepted
Carlos R Varón1Santiago Andrés Suárez-Gómez1,2Daniela Varón1,2Libelly Gomez Florez1Carolina Cortes1Elda Graciela Velez1
Isabella Corona1*- 1Unidad hematoOncologica Especializada, Cucuta, Colombia
- 2Pontificia Universidad Javeriana, Bogotá, Colombia
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive condition marked by lysosomal dysfunction, partial albinism, neurological impairment, and marked immunodeficiency. Patients with CHS exhibit increased susceptibility to aggressive malignancies, notably lymphoproliferative disorders. This report describes a 25-year-old male with CHS, complicated by Inborn error of immunity (IEI)-associated lymphoproliferative disorder (IEI-LPD). His initial symptoms presented were severe lower back pain, weight loss, and constitutional symptoms, alongside classic phenotypic features of CHS, including hypopigmentation, neurological abnormalities, and ocular manifestations. Laboratory findings revealed leucopenia, decreased immunoglobulins (IgA, IgM), and impaired natural killer cell function, confirming severe immune dysfunction. Imaging studies identified vertebral fractures, a retroaortic mass, and splenomegaly; histopathology confirmed IEI-LPD. Treatment comprised six cycles of dose-adjusted EPOCH chemotherapy with pegfilgrastim prophylaxis, achieving an initial complete response. Nevertheless, progressive neurological deterioration, recurrent infections, and institutional limitations contributed to this patient's eventual demise. Genetic sequencing identified a homozygous LYST mutation variant c.9464G>A (p.R3155Q), classified as a variant of uncertain significance. This report underscores the diagnostic and therapeutic challenges in rare hematologic malignancies, emphasizing the importance of genetic characterisation through next-generation sequencing and advocating for improved awareness, early diagnosis, and multidisciplinary management strategies for optimal outcomes in CHS-associated malignancies.
Keywords: Chediak Higashi syndrome, LYST gene, Neoplasms, Neurodegenerative Diseases, Next-generation sequencing, Primary immunodeficiency, T-cell lymphoma
Received: 20 Jun 2025; Accepted: 28 Nov 2025.
Copyright: © 2025 Varón, Suárez-Gómez, Varón, Gomez Florez, Cortes, Velez and Corona. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Isabella Corona
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.