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A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency.

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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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
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:
DateEvent
June 2019Published
13 February 2019Published Online
5 February 2019Accepted
Publisher License: Creative Commons: Attribution-Noncommercial-No Derivative Works 4.0
Projects:
Project IDFunderFunder ID
NET-2011-02350069Ministero della Salutehttp://dx.doi.org/10.13039/501100003196
ERARE-3-JTC 2015 EUROCIDEuropean CommissionUNSPECIFIED
TIGET Core grant C6Fondazione Telethonhttp://dx.doi.org/10.13039/501100002426
UM1 HG006542National Institutes of Healthhttp://dx.doi.org/10.13039/100000002
R01AI120989National Institutes of Healthhttp://dx.doi.org/10.13039/100000002
01GM1517BBundesministerium für Bildung und Forschunghttp://dx.doi.org/10.13039/501100002347
PubMed ID: 30771411
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/110680
Publisher's version: https://doi.org/10.1016/j.jaci.2019.02.003

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