Search Results - "González Serrano, M. Edith"

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature by Staines Boone, Aidé Tamara, Chinn, Ivan K, Alaez-Versón, Carmen, Yamazaki-Nakashimada, Marco A, Carrillo-Sánchez, Karol, García-Cruz, María de la Luz Hortensia, Poli, M Cecilia, González Serrano, M Edith, Medina Torres, Edgar A, Muzquiz Zermeño, David, Forbes, Lisa R, Espinosa-Rosales, Francisco J, Espinosa-Padilla, Sara E, Orange, Jordan S, Lugo Reyes, Saul Oswaldo

“…DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range…”
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Activating de novo monoallelic variants causing inborn errors of immunity in two unrelated children born of HIV-seroconcordant couples by Lugo Reyes, Saul O., Solórzano Suárez, Andrea, Scheffler Mendoza, Selma C., Xóchihua Díaz, Luis, González Serrano, M. Edith, López Herrera, Gabriela, Medina-Torres, Edgar Alejandro, Cruz Ugalde, Claudia I., Olguín-Calderón, Diana, Berrón Ruiz, Laura, Espinosa-Padilla, Sara E., Yamazaki-Nakashimada, Marco Antonio, Murata, Chiharu

“…Around 20% of all inborn errors of immunity (IEI) are autosomal dominant or monoallelic, either by haploinsufficiency, negative dominance, or gain of function…”
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Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases by Conti, Francesca, MD, PhD, Lugo-Reyes, Saul Oswaldo, MD, Blancas Galicia, Lizbeth, MD, He, Jianxin, MD, Aksu, Güzide, MD, Borges de Oliveira, Edgar, PhD, Deswarte, Caroline, MSc, Hubeau, Marjorie, PhD, Karaca, Neslihan, MD, de Suremain, Maylis, AS, Guérin, Antoine, MSc, Baba, Laila Ait, PhD, Prando, Carolina, MD, PhD, Guerrero, Gloria G., PhD, Emiroglu, Melike, MD, Öz, Fatma Nur, MD, Yamazaki Nakashimada, Marco Antonio, MD, Gonzalez Serrano, Edith, MD, Espinosa, Sara, MD, PhD, Barlan, Isil, MD, Pérez, Nestor, MD, PhD, Regairaz, Lorena, MD, Guidos Morales, Héctor Eduardo, MD, Bezrodnik, Liliana, MD, Di Giovanni, Daniela, MD, Dbaibo, Ghassan, MD, Ailal, Fatima, MD, Galicchio, Miguel, MD, Oleastro, Matias, MD, Chemli, Jalel, MD, Danielian, Silvia, PhD, Perez, Laura, BSc, Ortega, Maria Claudia, MD, Soto Lavin, Susana, MD, PhD, Hertecant, Joseph, MD, Anal, Ozden, MD, Kechout, Nadia, MD, Al-Idrissi, Eman, MD, ElGhazali, Gehad, MD, PhD, Bondarenko, Anastasia, MD, Chernyshova, Liudmyla, MD, Ciznar, Peter, MD, Herbigneaux, Rose-Marie, MD, Diabate, Aminata, AS, Ndaga, Stéphanie, AS, Konte, Barik, AS, Czarna, Ambre, AS, Migaud, Mélanie, AS, Pedraza-Sánchez, Sigifredo, PhD, Zaidi, Mussaret Bano, MD, Msc, Vogt, Guillaume, PhD, Blanche, Stéphane, MD, Benmustapha, Imen, MD, Mansouri, Davood, MD, Abel, Laurent, MD, PhD, Boisson-Dupuis, Stéphanie, PhD, Mahlaoui, Nizar, MD, MSc, MPH, Bousfiha, Ahmed Aziz, MD, Picard, Capucine, MD, PhD, Barbouche, Ridha, MD, PhD, Al-Muhsen, Saleh, MD, Espinosa-Rosales, Francisco J., MD, Kütükçüler, Necil, MD, Condino-Neto, Antonio, MD, PhD, Casanova, Jean-Laurent, MD, PhD, Bustamante, Jacinta, MD, PhD

“…Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide…”
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