Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report
While Trisomy X syndrome is typically characterized by developmental and cognitive variations, it is not commonly associated with immunodeficiencies. We report the unique case of a 6-year-old girl with Trisomy X presenting with selective IgA deficiency, challenging the conventional understanding of...
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Frontiers Media S.A.
2024-12-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2024.1518076/full |
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| author | Fabrizio Leone Fabrizio Leone Alessandra Gori Bianca Laura Cinicola Bianca Laura Cinicola Giulia Brindisi Vittorio Maglione Caterina Anania Anna Maria Zicari |
| author_facet | Fabrizio Leone Fabrizio Leone Alessandra Gori Bianca Laura Cinicola Bianca Laura Cinicola Giulia Brindisi Vittorio Maglione Caterina Anania Anna Maria Zicari |
| author_sort | Fabrizio Leone |
| collection | DOAJ |
| description | While Trisomy X syndrome is typically characterized by developmental and cognitive variations, it is not commonly associated with immunodeficiencies. We report the unique case of a 6-year-old girl with Trisomy X presenting with selective IgA deficiency, challenging the conventional understanding of this chromosomal condition. The patient exhibited recurrent respiratory infections and gastrointestinal symptoms, evaluated in the context of her genetic background of Trisomy X and significantly low levels of IgA (0.03 g/L), yet normal IgG and IgM levels. Immunological assessment revealed a poor response to vaccination to HBV, necessitating an adapted vaccination strategy. Gastrointestinal investigations indicated paradoxical diarrhea secondary to chronic constipation, managed with dietary interventions. The presence of an extra X chromosome raises questions about the potential over-expression of genes that escape X-chromosome inactivation, such as FOXP3, which is crucial for the regulation of regulatory T cells. An abnormal expression of FOXP3 could lead to either heightened immune regulation, increasing susceptibility to infections, or to immune dysregulation. Although Trisomy X is not typically associated with immunodeficiencies, this case, paralleled by another patient with Trisomy X and CVID, suggests a need for further speculative research into possible genetic links. Moreover, a 1969 study reported lower IgA levels in women with an extra X chromosome. In conclusion, this case aims to underscore the necessity for a deeper genetic and immunological evaluation in chromosomal anomalies like Trisomy X to fully understand their speculative impact on immune function. |
| format | Article |
| id | doaj-art-405e1fdb81f24669a50820400751d8d2 |
| institution | OA Journals |
| issn | 1664-3224 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj-art-405e1fdb81f24669a50820400751d8d22025-08-20T02:36:03ZengFrontiers Media S.A.Frontiers in Immunology1664-32242024-12-011510.3389/fimmu.2024.15180761518076Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case reportFabrizio Leone0Fabrizio Leone1Alessandra Gori2Bianca Laura Cinicola3Bianca Laura Cinicola4Giulia Brindisi5Vittorio Maglione6Caterina Anania7Anna Maria Zicari8Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Translational and Precision Medicine, Sapienza University of Rome, Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, ItalyWhile Trisomy X syndrome is typically characterized by developmental and cognitive variations, it is not commonly associated with immunodeficiencies. We report the unique case of a 6-year-old girl with Trisomy X presenting with selective IgA deficiency, challenging the conventional understanding of this chromosomal condition. The patient exhibited recurrent respiratory infections and gastrointestinal symptoms, evaluated in the context of her genetic background of Trisomy X and significantly low levels of IgA (0.03 g/L), yet normal IgG and IgM levels. Immunological assessment revealed a poor response to vaccination to HBV, necessitating an adapted vaccination strategy. Gastrointestinal investigations indicated paradoxical diarrhea secondary to chronic constipation, managed with dietary interventions. The presence of an extra X chromosome raises questions about the potential over-expression of genes that escape X-chromosome inactivation, such as FOXP3, which is crucial for the regulation of regulatory T cells. An abnormal expression of FOXP3 could lead to either heightened immune regulation, increasing susceptibility to infections, or to immune dysregulation. Although Trisomy X is not typically associated with immunodeficiencies, this case, paralleled by another patient with Trisomy X and CVID, suggests a need for further speculative research into possible genetic links. Moreover, a 1969 study reported lower IgA levels in women with an extra X chromosome. In conclusion, this case aims to underscore the necessity for a deeper genetic and immunological evaluation in chromosomal anomalies like Trisomy X to fully understand their speculative impact on immune function.https://www.frontiersin.org/articles/10.3389/fimmu.2024.1518076/fullTrisomy xIgA deficiencyimmunodeficiencyFoxp3CVID |
| spellingShingle | Fabrizio Leone Fabrizio Leone Alessandra Gori Bianca Laura Cinicola Bianca Laura Cinicola Giulia Brindisi Vittorio Maglione Caterina Anania Anna Maria Zicari Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report Frontiers in Immunology Trisomy x IgA deficiency immunodeficiency Foxp3 CVID |
| title | Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report |
| title_full | Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report |
| title_fullStr | Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report |
| title_full_unstemmed | Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report |
| title_short | Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report |
| title_sort | extra x extra questions trisomy x syndrome and iga deficiency a case report |
| topic | Trisomy x IgA deficiency immunodeficiency Foxp3 CVID |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2024.1518076/full |
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