Volpi, S;
Cicalese, MP;
Tuijnenburg, P;
Tool, ATJ;
Cuadrado, E;
Ahanchian, H;
Alzyoud, R;
Akdemir, ZC;
Barzaghi, F;
Blank, A;
et al.
Volpi, S; Cicalese, MP; Tuijnenburg, P; Tool, ATJ; Cuadrado, E; Ahanchian, H; Alzyoud, R; Akdemir, ZC; Barzaghi, F; Blank, A; Boisson, B; Bottino, C; Caorsi, R; Casanova, J-L; Chiesa, S; Chinn, IK; Dückers, G; Enders, A; Erichsen, HC; Forbes, LR; Gambin, T; Gattorno, M; Karimiani, EG; Giliani, S; Gold, MS; Abu-Halaweh, M; Brigida, I; Jacobsen, E-M; Jansen, MH; King, JR; Laxer, RM; Lupski, JR; Mace, E; Marcenaro, S; Maroofian, R; Meijer, AB; Niehues, T; Notarangelo, LD; Orange, J; Pannicke, U; Pearson, C; Picco, P; Quinn, PJ; Schulz, A; Seeborg, F; Stray-Pedersen, A; Tawamie, H; van Leeuwen, EMM; Aiuti, A; Yeung, R; Schwarz, K; Kuijpers, TW
(2019)
A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency.
J Allergy Clin Immunol, 143 (6).
pp. 2296-2299.
ISSN 1097-6825
https://doi.org/10.1016/j.jaci.2019.02.003
SGUL Authors: Maroofian, Reza
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Restricted to Repository staff only until 13 February 2020. Available under License Creative Commons Attribution Non-commercial No Derivatives. Download (9MB) |
Abstract
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 clinically.
Item Type: | Article | |||||||||||||||||||||
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Additional Information: | © 2019. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ | |||||||||||||||||||||
Keywords: | ARPC1B, Allergy, Combined immunodeficiency, Infection, Inflammation, Thrombocytopenia, 1107 Immunology, Allergy | |||||||||||||||||||||
SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) | |||||||||||||||||||||
Journal or Publication Title: | J Allergy Clin Immunol | |||||||||||||||||||||
ISSN: | 1097-6825 | |||||||||||||||||||||
Language: | eng | |||||||||||||||||||||
Dates: |
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Publisher License: | Creative Commons: Attribution-Noncommercial-No Derivative Works 4.0 | |||||||||||||||||||||
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PubMed ID: | 30771411 | |||||||||||||||||||||
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URI: | http://sgultest.da.ulcc.ac.uk/id/eprint/110680 | |||||||||||||||||||||
Publisher's version: | https://doi.org/10.1016/j.jaci.2019.02.003 |
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