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
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.
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