Characterization of thymic architecture and lymphocyte populations in X-MAID due to an underlying pathogenic moesin mutation

Publication: LymphoSign Journal
12 August 2024

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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Information & Authors

Information

Published In

cover image LymphoSign Journal
LymphoSign Journal
Volume 11Number 2June 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

Authors

Affiliations

Abdulrahman Al Ghamdi
Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON
Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia
Linda Vong
Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON
Chaim M. Roifman
Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON
Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON

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