Articolul precedent |
Articolul urmator |
234 0 |
Căutarea după subiecte similare conform CZU |
616:612-017.1-097.3(478) (1) |
Патология. Клиническая медицина (6964) |
Физиология. Сравнительная физиология (725) |
SM ISO690:2012 SAKARA, Viktoria K.. Molecular genetic diagnosis of primary immunodeficiencies in the Republic of Moldova. In: Imunopedia, Ed. Ediția a 2-a, 9-10 septembrie 2022, Chişinău. Chişinău: Centrul Editorial-Poligrafic Medicina, 2022, Ediția a 2-a, pp. 41-48. ISBN 978-9975-82-300-5. |
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Imunopedia Ediția a 2-a, 2022 |
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Conferința "Imunopedia" Ediția a 2-a, Chişinău, Moldova, 9-10 septembrie 2022 | ||||||
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CZU: 616:612-017.1-097.3(478) | ||||||
Pag. 41-48 | ||||||
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Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity, the majority of which present in infancy and result in significant morbidity and mortality. In Institute of Mother and Child, in Laboratory of Molecular Human genetics research on primary immunodeficiency has been started in 2015. Medium TREC (6565.2354 for 100000 cells) and KREC (8173.212 for 100000 cells) concentrations for presumably healthy newborns from Moldova were counted. We developed our proprietary TREC/KREC assay for newborn screening. A detailed analysis of the clinical profiles, biochemical and molecular-genetic investigations and outcome of the 3 children diagnosed with WAS in our laboratory during the period 2016-2019 was performed. During selective screening we found 9 cases of DiGeorge type I Syndrome and one case of familial Mediterranean fever (NGS and Sanger confirmed). Molecular diagnosis of PID helps in genetic counseling and to make therapeutic decisions including the need for a stem cell transplantation. |
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