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

Intern Emerg Med

January 2025

Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.

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.

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Purpose: Malaria remains a major global health challenge, particularly in sub-Saharan Africa and low- and middle-income countries (LMICs), contributing substantially to mortality and morbidity rates. In resource-limited settings, access to specialized diagnostic tests is often restricted, making basic blood analysis a valuable diagnostic tool. This study investigated the correlation between malaria infection and full blood count values in a rural region of Ghana during the 2022 rainy season, aiming to highlight diagnostic insights available from routine blood analyses.

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Purpose: To describe a case of short common trunk of the occipital artery (OA) and ascending pharyngeal artery (APA) arising from the internal carotid artery (ICA).

Methods: A 36-year-old woman with a history of surgical resection of a right lateral ventricular meningioma and atheromatous plaque of the right ICA underwent cranial magnetic resonance (MR) imaging and MR angiography of the head and neck region with a 3-Tesla scanner.

Results: MR angiography of the neck region showed a small atheromatous plaque at the origin of the right ICA and an anomalous artery arising from the posteromedial aspect of the right ICA at the distal end of the carotid bulb.

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Vitiligo is a pigmentary disorder acquired and caused by the loss or destruction of melanocytes from the epidermis. There is strong proof that vitiligo is mainly an autoimmune disease. Cathelicidin (LL37), an antimicrobial polypeptide, is an important part of the innate immune system and has a role in different skin autoimmune diseases.

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