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CASE REPORT article

Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1518076
This article is part of the Research Topic Decoding Syndromic Immunodeficiencies: Bridging Genetics and Immune Dysfunctions View all articles

Extra X, Extra Questions: Trisomy X Syndrome and IgA Deficiency -A Case Report

Provisionally accepted
Fabrizio Leone Fabrizio Leone 1,2*Alessandra Gori Alessandra Gori 1Bianca Laura Cinicola Bianca Laura Cinicola 1,3Giulia Brindisi Giulia Brindisi 1Vittorio Maglione Vittorio Maglione 1Caterina Anania Caterina Anania 1Anna Maria Zicari Anna Maria Zicari 1
  • 1 Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy
  • 2 Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy
  • 3 Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

The final, formatted version of the article will be published soon.

    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.

    Keywords: Trisomy x, IgA Deficiency, immunodeficiency, Foxp3, CVID

    Received: 27 Oct 2024; Accepted: 21 Nov 2024.

    Copyright: © 2024 Leone, Gori, Cinicola, Brindisi, Maglione, Anania and Zicari. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Fabrizio Leone, Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy

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