Genomic profiling at a single center cracks the code in inborn errors of immunity.

IF 3.2 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL
Alessandro Andriano, Vanessa Desantis, Carolina Marasco, Antonio Marzollo, Silvia Bresolin, Nicoletta Resta, Lucia Di Marzo, Fabrizio Pappagallo, Antonella Mascolo, Ingrid Catalina Caradonna, Simona D'Amore, Angelo Vacca, Antonio Giovanni Solimando
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引用次数: 0

Abstract

Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis. Clinical records, immune characteristics, and family histories were reviewed, and a target gene panel (TGP) sequencing was performed to identify pathogenic variants. TGPs identified seven variants in TNFRSF13B (TACI), CARMIL2, STAT1, STAT3, and ORAI1 genes. These findings provided definitive diagnoses and proper prognostic assessment. Patients exhibited a wide range of clinical manifestations, including recurrent infections, autoimmune cytopenias, and organ-specific complications. The genetic diversity observed highlights the importance of genetic testing in diagnosing IEIs and tailoring treatments. This study underscores the role of TGPs in diagnosing IEIs, revealing significant genetic heterogeneity and phenotypic variability. They offer a precise tool for identifying underlying genetic defects, facilitating personalized medicine approaches, and eventually improving patient outcomes. The findings emphasize the need for comprehensive genetic testing to uncover novel pathogenic variants, enhancing our understanding of immune system dysfunction. NGS is a critical tool for the management of IEI, enabling precise diagnosis and personalized treatment strategies. Despite resource limitations, the progressive affordability is likely to expand its clinical utility, ultimately improving patient care and advancing the field of immunology. In the meantime, accurate phenotypic assessment is essential for resource optimization and case prioritization.

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来源期刊
Internal and Emergency Medicine
Internal and Emergency Medicine 医学-医学:内科
CiteScore
7.20
自引率
4.30%
发文量
258
审稿时长
6-12 weeks
期刊介绍: Internal and Emergency Medicine (IEM) is an independent, international, English-language, peer-reviewed journal designed for internists and emergency physicians. IEM publishes a variety of manuscript types including Original investigations, Review articles, Letters to the Editor, Editorials and Commentaries. Occasionally IEM accepts unsolicited Reviews, Commentaries or Editorials. The journal is divided into three sections, i.e., Internal Medicine, Emergency Medicine and Clinical Evidence and Health Technology Assessment, with three separate editorial boards. In the Internal Medicine section, invited Case records and Physical examinations, devoted to underlining the role of a clinical approach in selected clinical cases, are also published. The Emergency Medicine section will include a Morbidity and Mortality Report and an Airway Forum concerning the management of difficult airway problems. As far as Critical Care is becoming an integral part of Emergency Medicine, a new sub-section will report the literature that concerns the interface not only for the care of the critical patient in the Emergency Department, but also in the Intensive Care Unit. Finally, in the Clinical Evidence and Health Technology Assessment section brief discussions of topics of evidence-based medicine (Cochrane’s corner) and Research updates are published. IEM encourages letters of rebuttal and criticism of published articles. Topics of interest include all subjects that relate to the science and practice of Internal and Emergency Medicine.
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