Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein–Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms
- 01.10.2024
- Research
Erschienen in:
- Verfasst von
- Bijun Sun
- Luyao Liu
- Lingli Han
- Qifan Li
- Qi Wu
- Jia Hou
- Wenjie Wang
- Wenjing Ying
- Qinhua Zhou
- Feng Qian
- Wei Lu
- Xiaochuan Wang
- Jinqiao Sun
- Erschienen in
- Journal of Clinical Immunology | Ausgabe 7/2024
Abstract
Purpose
Moesin (MSN) deficiency is a recently reported combined immunodeficiency, and few cases have been reported to date. We describe a Chinese patient with a novel mutation causing MSN deficiency and a novel phenotype.
Methods
Clinical and immunological data were collected. Whole-exome sequencing was performed to identify gene mutations. MSN protein expression and T cell proliferation and activation were determined by flow cytometry. Cell migration was confirmed with a Transwell assay. Autoantibody levels were analyzed using antigen microarrays.
Results
The patient was a 10-year-old boy who presented with recurrent fever, oral ulcers and dermatomyositis-like symptoms, such as periorbital edema, facial swelling, elevated creatine kinase levels, and abnormal electromyography and muscle biopsy results. Epstein–Barr virus (EBV) DNA was detected in the serum, cells and tissues of this patient. He further developed nasal-type NK/T-cell lymphoma. A novel hemizygous mutation (c.68 A > G, p.N23S) in the MSN gene was found. The immunological phenotype of this patient included persistent decreases in T and B lymphocyte counts but normal immunoglobulin IgG levels. The patient had attenuated MSN protein expression and impaired T-cell proliferation and migration. The proportions of Tfh cells and CD21low B cells in the patient were higher than those in the controls. Moreover, 82 IgG and 102 IgM autoantibodies were more abundant in the patient than in the healthy controls.
Conclusions
The novel mutation N23S is pathogenic and leads to a severe clinical phenotype. EBV infection, tumor, and dermatomyositis-like autoimmune symptoms may be associated with MSN deficiency, further expanding the understanding of the disease.
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- Titel
- Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein–Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms
- Verfasst von
-
Bijun Sun
Luyao Liu
Lingli Han
Qifan Li
Qi Wu
Jia Hou
Wenjie Wang
Wenjing Ying
Qinhua Zhou
Feng Qian
Wei Lu
Xiaochuan Wang
Jinqiao Sun
- Publikationsdatum
- 01.10.2024
- Verlag
- Springer US
- Erschienen in
-
Journal of Clinical Immunology / Ausgabe 7/2024
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592 - DOI
- https://doi.org/10.1007/s10875-024-01755-0
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