Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias by Chen, Rui, PhD, Giliani, Silvia, PhD, Lanzi, Gaetana, PhD, Mias, George I., PhD, Lonardi, Silvia, BS, Dobbs, Kerry, BS, Manis, John, MD, Im, Hogune, PhD, Gallagher, Jennifer E., PhD, Phanstiel, Douglas H., PhD, Euskirchen, Ghia, PhD, Lacroute, Philippe, PhD, Bettinger, Keith, MS, Moratto, Daniele, PhD, Weinacht, Katja, MD, Montin, Davide, MD, Gallo, Eleonora, MD, Mangili, Giovanna, MD, Porta, Fulvio, MD, Notarangelo, Lucia D., MD, Pedretti, Stefania, MD, Al-Herz, Waleed, MD, Alfahdli, Wasmi, MD, Comeau, Anne Marie, PhD, Traister, Russell S., MD, PhD, Pai, Sung-Yun, MD, Carella, Graziella, PhD, Facchetti, Fabio, MD, Nadeau, Kari C., MD, PhD, Snyder, Michael, PhD, Notarangelo, Luigi D., MD

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Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mu... by Weinacht, Katja G., MD, PhD, Charbonnier, Louis-Marie, PhD, Alroqi, Fayhan, MD, Plant, Ashley, MD, Qiao, Qi, PhD, Wu, Hao, PhD, Ma, Clement, PhD, Torgerson, Troy R., MD, PhD, Rosenzweig, Sergio D., MD, PhD, Fleisher, Thomas A., MD, Notarangelo, Luigi D., MD, Hanson, Imelda C., MD, Forbes, Lisa R., MD, Chatila, Talal A., MD, MSc

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First reported case of Omenn syndrome in a patient with reticular dysgenesis by Henderson, Lauren A., MD, Frugoni, Francesco, PhD, Hopkins, Gregory, BS, Al-Herz, Waleed, MD, Weinacht, Katja, MD, Comeau, Anne Marie, PhD, Bonilla, Francisco A., MD, PhD, Notarangelo, Luigi D., MD, Pai, Sung-Yun, MD

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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots by la Marca, Giancarlo, PharmSc, Canessa, Clementina, MD, Giocaliere, Elisa, BSc, Romano, Francesca, BSc, Malvagia, Sabrina, BSc, Funghini, Silvia, PhD, Moriondo, Maria, BSc, Valleriani, Claudia, BSc, Lippi, Francesca, MD, Ombrone, Daniela, BSc, Della Bona, Maria Luisa, PharmSc, Speckmann, Carsten, MD, Borte, Stephan, MD, Brodszki, Nicholas, MD, Gennery, Andrew R., MD, Weinacht, Katja, Celmeli, Fatih, MD, Pagel, Julia, MD, de Martino, Maurizio, MD, Guerrini, Renzo, MD, Wittkowski, Helmut, MD, Santisteban, Ines, PhD, Bali, Pawan, PhD, Ikinciogullari, Aydan, MD, Hershfield, Michael, MD, Notarangelo, Luigi D., MD, Resti, Massimo, MD, Azzari, Chiara, MD

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