Characterization of thymic architecture and lymphocyte populations in X-MAID due to an underlying pathogenic moesin mutation
Abstract
Background: X-linked Moesin Associated Immunodeficiency (X-MAID) is a combined immunodeficiency caused by deficiency in the moesin protein. Moesin, which is encoded by the MSN gene, is part of the ezrin-radixin-moesin (ERM) family of transmembrane proteins that interact with the actin cytoskeleton and regulate the shape and migration of cells. Deficiency of moesin is associated with aberrant T cell migration and inadequate immune synapse formation, leading to significant immunodeficiency and recurrent infections. While the clinical presentation of X-MAID is diverse, to date, no thymus histopathology findings have been reported.
Aim: Describe the thymus histopathology of a patient with X-MAID.
Results: Our patient is a 10-year-old male who presented early in life with recurrent infections, dysmorphic features, and severe pulmonary venous stenosis which required a double lung transplant at the age of 4 years. Prior to transplant, he was referred to Immunology for assessment and was subsequently found to harbour a hemizygous variant in the MSN gene (c.278dupT; p.L93FfsX21). Thymus histopathology findings showed significant cortical atrophy and dysplasia and was accompanied by reduction in CD3+ cells in the cortex. Abnormally low numbers of suppressor T cells and T helper cells in the thymic cortex and medulla were noted.
Conclusion: Thymic findings in X-MAID can include cortical atrophy, dysplasia, and decreased cellularity. This provides further evidence for the importance of moesin on T cell development and migration in the thymus.
Statement of novelty: Description of thymus histopathology in a patient with X-MAID.
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LymphoSign Journal
Volume 11 • Number 2 • June 2024
Pages: 38 - 44
History
Received: 15 May 2024
Accepted: 10 June 2024
Accepted manuscript online: 10 June 2024
Version of record online: 12 August 2024
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© 2024.
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AbdulrahmanAl Ghamdi, LindaVong, ChaimM. Roifman, and BoNgan. 2024. Characterization of thymic architecture and lymphocyte populations in X-MAID due to an underlying pathogenic moesin mutation. LymphoSign Journal.
11(2): 38-44. https://doi.org/10.14785/lymphosign-2024-0005
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