Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia
X-linked moesin-associated immunodeficiency (X-MAID) is a recently identified combined immunodeficiency caused by a mutation in the moesin (MSN) gene. It is characterized by cytopenias, hypogammaglobulinemia, poor immune response to vaccine antigens, and increased susceptibility to early-life infect...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/crii/3860726 |
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| author | Yandy Marx Castillo-Aleman Francisco Sotomayor-Lugo Sherjeel Sana Nameer Abdul Raheem Kadhum Al-Saadawi Yendry Ventura-Carmenate David Dennison Gianina Statache Julieta Osorio-Zuluaga Ahmad Raza David Grossman |
| author_facet | Yandy Marx Castillo-Aleman Francisco Sotomayor-Lugo Sherjeel Sana Nameer Abdul Raheem Kadhum Al-Saadawi Yendry Ventura-Carmenate David Dennison Gianina Statache Julieta Osorio-Zuluaga Ahmad Raza David Grossman |
| author_sort | Yandy Marx Castillo-Aleman |
| collection | DOAJ |
| description | X-linked moesin-associated immunodeficiency (X-MAID) is a recently identified combined immunodeficiency caused by a mutation in the moesin (MSN) gene. It is characterized by cytopenias, hypogammaglobulinemia, poor immune response to vaccine antigens, and increased susceptibility to early-life infections. We report a patient with adult-onset neutropenia, lymphopenia, inadequate response to the pneumococcal polysaccharide vaccine (PPSV23), and recurrent bacterial infections associated with a hemizygous MSN deletion. Notably, the patient has no history of significant childhood infections, cytopenias, or hypogammaglobulinemia. Although only a few cases have been documented worldwide, we underscore the importance of whole-genome sequencing (WES) in diagnosing this atypical immunodeficiency disease in adulthood. Moreover, this report may shed light on our understanding of further variants of X-MAID and enrich the known spectrum of the disease. |
| format | Article |
| id | doaj-art-8abc1c994adb463c87bcee2f548f1d69 |
| institution | DOAJ |
| issn | 2090-6617 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-8abc1c994adb463c87bcee2f548f1d692025-08-20T02:44:46ZengWileyCase Reports in Immunology2090-66172024-01-01202410.1155/crii/3860726Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic NeutropeniaYandy Marx Castillo-Aleman0Francisco Sotomayor-Lugo1Sherjeel Sana2Nameer Abdul Raheem Kadhum Al-Saadawi3Yendry Ventura-Carmenate4David Dennison5Gianina Statache6Julieta Osorio-Zuluaga7Ahmad Raza8David Grossman9Department of ImmunologyDepartment of Molecular BiologyDepartment of Medical Oncology and HematologyDepartment of HematologyDepartment of ImmunologyDepartment of HematologyDepartment of RheumatologyDepartment of Medical Oncology and HematologyDepartment of Medical Oncology and HematologyDepartment of Medical Oncology and HematologyX-linked moesin-associated immunodeficiency (X-MAID) is a recently identified combined immunodeficiency caused by a mutation in the moesin (MSN) gene. It is characterized by cytopenias, hypogammaglobulinemia, poor immune response to vaccine antigens, and increased susceptibility to early-life infections. We report a patient with adult-onset neutropenia, lymphopenia, inadequate response to the pneumococcal polysaccharide vaccine (PPSV23), and recurrent bacterial infections associated with a hemizygous MSN deletion. Notably, the patient has no history of significant childhood infections, cytopenias, or hypogammaglobulinemia. Although only a few cases have been documented worldwide, we underscore the importance of whole-genome sequencing (WES) in diagnosing this atypical immunodeficiency disease in adulthood. Moreover, this report may shed light on our understanding of further variants of X-MAID and enrich the known spectrum of the disease.http://dx.doi.org/10.1155/crii/3860726 |
| spellingShingle | Yandy Marx Castillo-Aleman Francisco Sotomayor-Lugo Sherjeel Sana Nameer Abdul Raheem Kadhum Al-Saadawi Yendry Ventura-Carmenate David Dennison Gianina Statache Julieta Osorio-Zuluaga Ahmad Raza David Grossman Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia Case Reports in Immunology |
| title | Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia |
| title_full | Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia |
| title_fullStr | Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia |
| title_full_unstemmed | Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia |
| title_short | Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia |
| title_sort | hemizygous moesin msn gene deletion in an adult with chronic neutropenia |
| url | http://dx.doi.org/10.1155/crii/3860726 |
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