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Marta Zelazko Magda Carneiro-Sampaio Monica Cornejo De Luigi Diana Garcia De Olarte Oscar Porras Madrigal Renato Berrón Perez Agueda Cabello Marylin Valentin Rostan Ricardo U. Sorensen 《Journal of clinical immunology》1998,18(2):161-166
The Latin American Group for Primary Immunodeficiencies, formed in 1993, presently includes 12 countries. One goal was to study the frequency of primary immunodeficiencies in various regions of the American continent and to enhance knowledge about these diseases among primary-care physicians, as well as allergist–immunologists. Important for this purpose was the development of a registry of primary immunodeficiencies using a uniform questionnaire and computerized database. To date, eight countries have collected information on a total of 1428 patients. Predominantly antibody deficiencies were reported in 58% of patients, followed by cellular and antibody immunodeficiencies associated with other abnormalities in 18%, immunodeficiency syndromes associated with granulocyte dysfunction in 8%, phagocytic disorders in 9%, combined cellular and antibody immunodeficiencies in 5%, and complement deficiencies in 2% of patients. The information gathered from this initial analysis of data will serve to expand the patient database to more areas within participating countries and to new countries and to increase collaboration toward better diagnosis and treatment of these diseases. 相似文献
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Nitesh Tewari Vijay Prakash Mathur Vikender Singh Yadav Prabhat Chaudhari 《Special care in dentistry》2017,37(6):309-313
Leukocyte adhesion defect I is a rare disorder (1:1,000,000) caused by diminished expression of CD‐18 β2 integrins on leukocytes leading to abnormal adhesion, migration, and chemotaxis. Clinical manifestations include delayed separation of umbilical cord, omphalitis, recurrent severe infections, impaired wound healing, persistent oral ulcers, and severe periodontitis in primary and permanent dentition. A 5‐year‐old girl, second‐born child to parents with consanguinity, presented with pain and mobility of lower teeth. There was history of recurrent infections and multiple hospital admissions with CD18 level‐3% and frame shift mutation in ITGB2, on 21q22.3. There were scars on hands and feet. Oral examination revealed multiple missing teeth and periodontitis in primary dentition. Oral prophylaxis and palliative treatments were performed with periodic follow‐ups. Interdisciplinary care is ubiquitous for patients with immune deficiencies. Early consultation with pediatric dentists and exploration of medical history is essential for diagnosis and treatment of rare diseases. 相似文献
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Herpes simplex virus type 2 (HSV-2) is a sexually transmitted pathogen that infects the genital tract. Efforts to develop vaccines to protect women against this and other sexually transmitted pathogens would be facilitated by a better understanding of the immune mechanisms that protect the female reproductive tract against such infections. Such information would be invaluable in developing vaccine strategies to promote the type and magnitude of immune responses in the genital tract that would effectively protect against infection. This review focuses on recent studies using a progestin-treated adult mouse model to explore mucosal immunity to HSV-2 in the vagina. Evidence indicating a major role for both humoral and T cell immunity is presented. 相似文献
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《Human immunology》2021,82(11):871-882
Inborn errors of immunity (IEIs) include several hundred gene defects affecting various components of the immune system. As with other constitutional disorders, next-generation sequencing (NGS) is a powerful tool for the diagnosis of these diseases. While NGS can provide molecular confirmation of disease in a patient with a suspected or classic phenotype, it can also identify new molecular defects of the immune system, expand gene-disease phenotypes, clarify mechanism of disease, pattern of inheritance or identify new gene-disease associations. Multiple clinical specialties are involved in the diagnosis and management of patients with IEI, and most have no formal genetic training or expertise. To effectively utilize NGS tools and data in clinical practice, it is relevant and pragmatic to obtain a modicum of knowledge about genetic terminology, the variety of platforms and tools available for high-throughput genomic analysis, the interpretation and implementation of such data in clinical practice. There is considerable variability not only in the technologies and analytical tools used for NGS but in the bioinformatics approach to variant identification and interpretation. The ability to provide a molecular basis for disease has the potential to alter therapeutic management and longer-term treatment of the disease, including developing personalized approaches with molecularly targeted therapies. This review is intended for the clinical specialist or diagnostic immunologist who works in the area of inborn errors of immunity, and provides an overview of the need for genetic testing in these patients (the “why” aspect), the various technologies and analytical approaches, bioinformatics tools, resources, and challenges (the “how” aspect), and the clinical evidence for identifying which patients might be best served by such testing (the “when” aspect). 相似文献
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Heiko Sic Helene Kraus Josef Madl Karl-Andreas Flittner Audrey Lilly von Münchow Kathrin Pieper Marta Rizzi Anne-Kathrin Kienzler Korcan Ayata Sebastian Rauer Burkhard Kleuser Ulrich Salzer Meike Burger Katja Zirlik Vassilios Lougaris Alessandro Plebani Winfried Römer Christoph Loeffler Samantha Scaramuzza Anna Villa Emiko Noguchi Bodo Grimbacher Hermann Eibel 《The Journal of allergy and clinical immunology》2014
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Anissa Chouikha Dorra Rezig Nadia Driss Ichrak Abdelkhalek Ahlem Ben Yahia Henda Touzi Zina Meddeb Essia Ben Farhat Mahrez Yahyaoui Henda Triki 《Viruses》2021,13(3)
This report is an overview of enterovirus (EV) detection in Tunisian polio-suspected paralytic cases (acute flaccid paralysis (AFP) cases), healthy contacts and patients with primary immunodeficiencies (PID) during an 11-year period. A total of 2735 clinical samples were analyzed for EV isolation and type identification, according to the recommended protocols of the World Health Organization. Three poliovirus (PV) serotypes and 28 different nonpolio enteroviruses (NPEVs) were detected. The NPEV detection rate was 4.3%, 2.8% and 12.4% in AFP cases, healthy contacts and PID patients, respectively. The predominant species was EV-B, and the circulation of viruses from species EV-A was noted since 2011. All PVs detected were of Sabin origin. The PV detection rate was higher in PID patients compared to AFP cases and contacts (6.8%, 1.5% and 1.3% respectively). PV2 was not detected since 2015. Using nucleotide sequencing of the entire VP1 region, 61 strains were characterized as Sabin-like. Among them, six strains of types 1 and 3 PV were identified as pre-vaccine-derived polioviruses (VDPVs). Five type 2 PV, four strains belonging to type 1 PV and two strains belonging to type 3 PV, were classified as iVDPVs. The data presented provide a comprehensive picture of EVs circulating in Tunisia over an 11-year period, reveal changes in their epidemiology as compared to previous studies and highlight the need to set up a warning system to avoid unnoticed PVs. 相似文献
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