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

To the Editor: Recently, a novel syndrome of combined immunodeficiency, allergy, and “auto”inflammation caused by mutations in the ARPC1B gene has been reported.1-4 Analysis of patient-derived hematopoietic cells has shown a defect in actin polymerization, which resulted in a wide range of clinical...

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Veröffentlicht in:Journal of allergy and clinical immunology 2019-06, Vol.143 (6), p.2296-2299
Hauptverfasser: Volpi, Stefano, Cicalese, Maria Pia, Tuijnenburg, Paul, Tool, Anton T.J., Cuadrado, Eloy, Abu-Halaweh, Marwan, Ahanchian, Hamid, Alzyoud, Raed, Akdemir, Zeynep Coban, Barzaghi, Federica, Blank, Alexander, Boisson, Bertrand, Bottino, Cristina, Brigida, Immacolata, 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., 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.
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Sprache:eng
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Zusammenfassung:To the Editor: Recently, a novel syndrome of combined immunodeficiency, allergy, and “auto”inflammation caused by mutations in the ARPC1B gene has been reported.1-4 Analysis of patient-derived hematopoietic cells has shown a defect in actin polymerization, which resulted in a wide range of clinical manifestations and immunologic-hematologic features. An increased rate and/or abnormal severity of respiratory tract infections (including pneumonia, bronchopneumonia, and bronchiolitis), and skin infections (including abscesses, erysipelas, extensive warts [Fig 1, B], and molluscum contagiosum), were observed in 71% and 50% of the patients, respectively, whereas severe, protracted bacterial gastrointestinal infections have been diagnosed in a minority of individuals (see Tables E2 and E4 in this article's Online Repository at www.jacionline.org). [...]our cohort delineates a more detailed and larger spectrum of ARPC1B deficiency phenotypes compared with previous reports.
ISSN:0091-6749
1097-6825
1097-6825
DOI:10.1016/j.jaci.2019.02.003