Newborn screening for severe combined immunodeficiency: lessons from a pilot study and prospects

Autor: O.R. Boyarchuk, N.M. Yarema, H.V. Makukh

Publikováno v: Zdorovʹe Rebenka, Vol 18, Iss 2, Pp 141-148 (2023)

The expansion of the neonatal screening program in Ukraine from October 2022 became an important achievement in the development of domestic medicine. Despite the severe challenges of the war and the burden of the COVID-19 pandemic, Ukraine was able t

Externí odkaz: https://doaj.org/article/c68accca5e0943de8e9e73545f4042e2

Editorial: Updates on convalescent plasma and monoclonal antibody therapies for infectious disease in patients with primary immunodeficiency

Autor: Antonio Condino-Neto, Andrew R. Gennery

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

Externí odkaz: https://doaj.org/article/397e2f8d444b4b78a5441580be1ecfa6

Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency

Autor: Christoph B. Geier, Jocelyn R. Farmer, Zsofia Foldvari, Boglarka Ujhazi, Jolanda Steininger, John W. Sleasman, Suhag Parikh, Meredith A. Dilley, Sung-Yun Pai, Lauren Henderson, Melissa Hazen, Benedicte Neven, Despina Moshous, Svetlana O. Sharapova, Snezhina Mihailova, Petya Yankova, Elisaveta Naumova, Seza Özen, Kevin Byram, James Fernandez, Hermann M. Wolf, Martha M. Eibl, Luigi D. Notarangelo, Leonard H. Calabrese, Jolan E. Walter

Publikováno v: Frontiers in Immunology, Vol 11 (2020)

Vasculitis can be a life-threatening complication associated with high mortality and morbidity among patients with primary immunodeficiencies (PIDs), including variants of severe and combined immunodeficiencies ((S)CID). Our understanding of vasculit

Externí odkaz: https://doaj.org/article/aaa9d21e5e644f5eb95e19b5062e8648

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Autor: Emilia Cirillo, Caterina Cancrini, Chiara Azzari, Silvana Martino, Baldassarre Martire, Andrea Pession, Alberto Tommasini, Samuele Naviglio, Andrea Finocchi, Rita Consolini, Paolo Pierani, Irene D'Alba, Maria Caterina Putti, Antonio Marzollo, Giuliana Giardino, Rosaria Prencipe, Federica Esposito, Fiorentino Grasso, Alessia Scarselli, Gigliola Di Matteo, Enrico Attardi, Silvia Ricci, Davide Montin, Fernando Specchia, Federica Barzaghi, Maria Pia Cicalese, Giuseppe Quaremba, Vassilios Lougaris, Silvia Giliani, Franco Locatelli, Paolo Rossi, Alessandro Aiuti, Raffaele Badolato, Alessandro Plebani, Claudio Pignata

Publikováno v: Frontiers in Immunology, Vol 10 (2019)

Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneit

Externí odkaz: https://doaj.org/article/4a7c5098e4f1432ea68957c8c2668b7e

Newborn screening for severe combined immunodeficiency: feasibility, opportunities, and perspectives

Autor: O.R. Boyarchuk

Publikováno v: CHILD`S HEALTH; Том 15, № 6 (2020); 471-479
Здоровье ребенка-Zdorovʹe rebenka; Том 15, № 6 (2020); 471-479
Здоров'я дитини-Zdorovʹe rebenka; Том 15, № 6 (2020); 471-479

Newborn screening is reasonable for rare conditions that cause serious health problems that are not defined by standard clinical examination but have effective methods of correction, and for which early diagnosis and treatment are important to achiev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85295c320650c4c5405105c84f6fc0d4
https://doi.org/10.22141/2224-0551.15.6.2020.215534