A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency
Articolo
Data di Pubblicazione:
2019
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.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
ARPC1B; Allergy; Combined immunodeficiency; Infection; Inflammation; Thrombocytopenia
Elenco autori:
Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dückers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S; Abu-Halaweh, Marwan; Brigida, Immacolata; Jacobsen, Eva-Maria; Jansen, Machiel H; King, Jovanka R; Laxer, Ronald M; Lupski, James R; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B; Niehues, Tim; Notarangelo, Luigi D; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjørg; Tawamie, Hasan; van Leeuwen, Ester M M; Aiuti, Alessandro; Yeung, Rae; Schwarz, Klaus; Kuijpers, Taco W
Link alla scheda completa:
Pubblicato in: