A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
| 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 |
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| Přispěvatelé: | APH - Aging & Later Life, Volpi, S., Cicalese, M. P., Tuijnenburg, P., Tool, A. T. J., Cuadrado, E., Abu-Halaweh, M., Ahanchian, H., Alzyoud, R., Akdemir, Z. C., Barzaghi, F., Blank, A., Boisson, B., Bottino, C., Brigida, I., Caorsi, R., Casanova, J. -L., Chiesa, S., Chinn, I. K., Duckers, G., Enders, A., Erichsen, H. C., Forbes, L. R., Gambin, T., Gattorno, M., Karimiani, E. G., Giliani, S., Gold, M. S., Jacobsen, E. -M., Jansen, M. H., King, J. R., Laxer, R. M., Lupski, J. R., Mace, E., Marcenaro, S., Maroofian, R., Meijer, A. B., Niehues, T., Notarangelo, L. D., Orange, J., Pannicke, U., Pearson, C., Picco, P., Quinn, P. J., Schulz, A., Seeborg, F., Stray-Pedersen, A., Tawamie, H., van Leeuwen, E. M. M., Aiuti, A., Yeung, R., Schwarz, K., Kuijpers, T. W., Graduate School, Experimental Immunology, Paediatric Infectious Diseases / Rheumatology / Immunology, Landsteiner Laboratory, ARD - Amsterdam Reproduction and Development |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Inflammation
Allergy ARPC1B Combined immunodeficiency Infection Thrombocytopenia Extramural business.industry Immunology medicine.disease Immunologic Deficiency Syndromes Article Mutation (genetic algorithm) medicine Immunology and Allergy Infections inflammation medicine.symptom business Immunodeficiency |
| Zdroj: | 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. |
| ISSN: | 0091-6749 1097-6825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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