Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jovanka R King"'
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 2, p 22 (2023)
Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficie
Externí odkaz:
https://doaj.org/article/cfe59acbeb1e48b59ca75cec2752cae0
Autor:
Jovanka R King, Cristina Bottino, Patrick Quinn, Alexander Blank, Asbjørg Stray-Pedersen, Michael Gold, Ulrich Pannicke, Emily M. Mace, Lisa R. Forbes, Marwan Abu-Halaweh, Eva-Maria Jacobsen, Anton T.J. Tool, Sabrina Chiesa, Roberta Caorsi, Marco Gattorno, Silvia Giliani, Stefano Volpi, Jordan S. Orange, Ivan K. Chinn, Taco W. Kuijpers, Immacolata Brigida, Hamid Ahanchian, Paul Tuijnenburg, Federica Barzaghi, Bertrand Boisson, Zeynep Coban Akdemir, Gregor Dückers, Chris Pearson, Machiel H. Jansen, Alexander B. Meijer, Maria Pia Cicalese, Ansgar Schulz, Filiz O. Seeborg, Eloy Cuadrado, Hasan Tawamie, Ehsan Ghayoor Karimiani, Jean-Laurent Casanova, Raed Alzyoud, Tomasz Gambin, Stefania Marcenaro, Luigi D. Notarangelo, Anselm Enders, Rae S. M. Yeung, Klaus Schwarz, Reza Maroofian, Hans Christian Erichsen, Paolo Picco, Ester M. M. van Leeuwen, Tim Niehues, Ronald M. Laxer, James R. Lupski, Alessandro Aiuti
Publikováno v:
Journal of Allergy and Clinical Immunology, 143(6), 2296-2299. Mosby Inc.
Journal of allergy and clinical immunology, 143(6), 2296-2299. Mosby Inc.
Journal of Allergy and Clinical Immunology, 143(6), 2296. Mosby Inc.
Journal of allergy and clinical immunology, 143(6), 2296-2299. Mosby Inc.
Journal of Allergy and Clinical Immunology, 143(6), 2296. Mosby Inc.
We report the natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency, delineating the spectrum of the disease that appears progressive and challenging to manage clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c41993e3bdfd1b3e9e98ef6538a9100e
https://doi.org/10.1016/j.jaci.2019.02.003
https://doi.org/10.1016/j.jaci.2019.02.003
Publikováno v:
Cellular Primary Immunodeficiencies ISBN: 9783030701062
Primary immunodeficiency diseases (PID) are a heterogeneous group of over 450 different genetically defined inborn errors of immunity, the hallmark of which is a predisposition to severe, unusual or recurrent infections. In addition, there are freque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d2d8bb5066d1b728a5a1ac05f36073e
https://doi.org/10.1007/978-3-030-70107-9_14
https://doi.org/10.1007/978-3-030-70107-9_14
Autor:
Stephan Borte, Nicholas Brodszki, C. I. Edvard Smith, Ulrika von Döbeln, Lennart Hammarström, Jovanka R King
Publikováno v:
Pediatric Allergy and Immunology. 29:453-456
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b02e84e4e94048d13ad93bf6e135b1a
https://doi.org/10.1111/pai.12893
https://doi.org/10.1111/pai.12893
Autor:
Jovanka R King, Lennart Hammarström
Publikováno v:
Journal of Clinical Immunology
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3a1223c69de53b5eb351740e4176bf
https://doi.org/10.1007/s10875-017-0455-x
https://doi.org/10.1007/s10875-017-0455-x
Publikováno v:
International Journal of Neonatal Screening, Vol 3, Iss 3, p 19 (2017)
Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afce9912519cb879979ed287f6cb9b13
https://www.mdpi.com/2409-515X/3/3/19
https://www.mdpi.com/2409-515X/3/3/19