A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary Immunodeficiencies

por Aldave Becerra, Juan Carlos, Cachay Rojas, Enrique
Publicado 2017

Cow's milk allergy non‐responsive to amino acid‐based formula? A successful transplanted patient with immune dysregulation, polyendocrinopathy, enteropathy, and X‐linked syndrome...

por Veramendi‐Espinoza, Liz, Rentería‐Valdiviezo, Claudia Alejandra, Díaz‐Subauste, Roxana, Aldave‐Becerra, Juan Carlos, Alva‐Lozada, Guisela, Becilli, Marco, Locatelli, Franco
Publicado 2021

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

por Conte, Matilde I., Poli, M. Cecilia, Taglialatela, Angelo, Leuzzi, Giuseppe, Chinn, Ivan K., Salinas, Sandra A., Rey-Jurado, Emma, Olivares, Nixa, Veramendi-Espinoza, Liz, Ciccia, Alberto, Lupski, James R., Aldave Becerra, Juan Carlos, Mace, Emily M., Orange, Jordan S.
Publicado 2022

All together to Fight COVID-19

por Momtazmanesh, Sara, Ochs, Hans D., Uddin, Lucina Q., Perc, Matjaz, Routes, John M., Vieira, Duarte Nuno, Al-Herz, Waleed, Baris, Safa, Prando, Carolina, Rosivall, Laszlo, Abdul Latiff, Amir Hamzah, Ulrichs, Timo, Roudenok, Vasili, Aldave Becerra, Juan Carlos, Salunke, Deepak B., Goudouris, Ekaterini, Condino-Neto, Antonio, Stashchak, Anzhela, Kryvenko, Oleksandr, Stashchak, Mykola, Bondarenko, Anastasia, Rezaei, Nima
Publicado 2020

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

por Frede, Natalie, Rojas-Restrepo, Jessica, Caballero Garcia de Oteyza, Andrés, Buchta, Mary, Hübscher, Katrin, Gámez-Díaz, Laura, Proietti, Michele, Saghafi, Shiva, Chavoshzadeh, Zahra, Soler-Palacin, Pere, Galal, Nermeen, Adeli, Mehdi, Aldave-Becerra, Juan Carlos, Al-Ddafari, Moudjahed Saleh, Ardenyz, Ömür, Atkinson, T. Prescott, Kut, Fulya Bektas, Çelmeli, Fatih, Rees, Helen, Kilic, Sara S., Kirovski, Ilija, Klein, Christoph, Kobbe, Robin, Korganow, Anne-Sophie, Lilic, Desa, Lunt, Peter, Makwana, Niten, Metin, Ayse, Özgür, Tuba Turul, Karakas, Ayse Akman, Seneviratne, Suranjith, Sherkat, Roya, Sousa, Ana Berta, Unal, Ekrem, Patiroglu, Turkan, Wahn, Volker, von Bernuth, Horst, Whiteford, Margo, Doffinger, Rainer, Jouhadi, Zineb, Grimbacher, Bodo
Publicado 2021