Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction von Moens, Leen, Gouwy, Mieke, Bosch, Barbara, Pastukhov, Oleksandr, Nieto-Patlàn, Alejandro, Siler, Ulrich, Bucciol, Giorgia, Mekahli, Djalila, Vermeulen, François, Desmet, Lars, Maebe, Sophie, Flipts, Helena, Corveleyn, Anniek, Moshous, Despina, Philippet, Pierre, Tangye, Stuart G., Boisson, Bertrand, Casanova, Jean-Laurent, Florkin, Benoit, Struyf, Sofie, Reichenbach, Janine, Bustamante, Jacinta, Notarangelo, Luigi D., Meyts, Isabelle

Volltext

Recognition of Candida albicans by Dectin-1 induces mast cell activation von Nieto-Patlán, Alejandro, Campillo-Navarro, Marcia, Rodríguez-Cortés, Octavio, Muñoz-Cruz, Samira, Wong-Baeza, Isabel, Estrada-Parra, Sergio, Estrada-García, Iris, Serafín-López, Jeanet, Chacón-Salinas, Rommel

Volltext

Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus von Nieto-Patlán, Alejandro, Fernández Dávila, Natalia S., Wang, Yuqing, Zelnick, Michelle, Muscal, Eyal, Curry, Martha, Lupski, James R., Holland, Steven M., Yuan, Bo, Kuhns, Douglas B., Vogel, Tiphanie P., Chinn, Ivan K.

Volltext

A partial form of inherited human USP18 deficiency underlies infection and inflammation von Martin-Fernandez, Marta, Buta, Sofija, Le Voyer, Tom, Li, Zhi, Dynesen, Lasse Toftdal, Vuillier, Françoise, Franklin, Lina, Ailal, Fatima, Muglia Amancio, Alice, Malle, Louise, Gruber, Conor, Benhsaien, Ibtihal, Altman, Jennie, Taft, Justin, Deswarte, Caroline, Roynard, Manon, Nieto-Patlan, Alejandro, Moriya, Kunihiko, Rosain, Jérémie, Boddaert, Nathalie, Bousfiha, Aziz, Crow, Yanick J, Jankovic, Dragana, Sher, Alan, Casanova, Jean-Laurent, Pellegrini, Sandra, Bustamante, Jacinta, Bogunovic, Dusan

Volltext

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency von Le Voyer, Tom, Sakata, Sonoko, Tsumura, Miyuki, Khan, Taushif, Esteve-Sole, Ana, Al-Saud, Bandar K, Gungor, Hatice Eke, Taur, Prasad, Jeanne-Julien, Valentine, Christiansen, Mette, Köhler, Lisa-Maria, ElGhazali, Gehad Eltayeb, Rosain, Jérémie, Nishimura, Shiho, Sakura, Fumiaki, Bouaziz, Matthieu, Oleaga-Quintas, Carmen, Nieto-Patlán, Alejandro, Deyà-Martinez, Àngela, Altuner Torun, Yasemin, Neehus, Anna-Lena, Roynard, Manon, Bozdemir, Sefika Elmas, Al Kaabi, Nawal, Al Hassani, Moza, Mersiyanova, Irina, Rozenberg, Flore, Speckmann, Carsten, Hainmann, Ina, Hauck, Fabian, Alzahrani, Mohammed Hamdan, Alhajjar, Sami Hussain, Al-Muhsen, Saleh, Cole, Theresa, Fuleihan, Ramsay, Arkwright, Peter D, Badolato, Raffaele, Alsina, Laia, Abel, Laurent, Desai, Mukesh, Al-Mousa, Hamoud, Shcherbina, Anna, Marr, Nico, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Okada, Satoshi, Bustamante, Jacinta

Volltext

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon von Oleaga-Quintas, Carmen, Deswarte, Caroline, Moncada-Vélez, Marcela, Metin, Ayse, Krishna Rao, Indumathi, Kanık-Yüksek, Saliha, Nieto-Patlán, Alejandro, Guérin, Antoine, Gülhan, Belgin, Murthy, Savita, Özkaya-Parlakay, Aslınur, Abel, Laurent, Martínez-Barricarte, Rubén, Pérez de Diego, Rebeca, Boisson-Dupuis, Stéphanie, Kong, Xiao-Fei, Casanova, Jean-Laurent, Bustamante, Jacinta

Volltext

IL-6, IL-10, sFas, granulysin and indicators of intestinal permeability as early biomarkers for a fatal outcome in COVID-19 von Hernández-Solis, Alejandro, Güemes-González, Azmavet M., Ruiz-Gómez, Ximena, Álvarez-Maldonado, Pablo, Castañeda-Casimiro, Jessica, Flores-López, Argelia, Ramírez-Guerra, Martha Alicia, Muñoz-Miranda, Omar, Madera-Sandoval, Ruth L., Arriaga-Pizano, Lourdes A., Nieto-Patlán, Alejandro, Estrada-Parra, Sergio, Pérez-Tapia, Sonia Mayra, Serafín-López, Jeanet, Chacón-Salinas, Rommel, Escobar-Gutiérrez, Alejandro, Soria-Castro, Rodolfo, Ruiz-Sánchez, Bibiana Patricia, Wong-Baeza, Isabel

Volltext

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency von Rosain, Jérémie, Oleaga-Quintas, Carmen, Deswarte, Caroline, Verdin, Hannah, Marot, Stéphane, Syridou, Garyfallia, Mansouri, Mahboubeh, Mahdaviani, S. Alireza, Venegas-Montoya, Edna, Tsolia, Maria, Mesdaghi, Mehrnaz, Chernyshova, Liudmyla, Stepanovskiy, Yuriy, Parvaneh, Nima, Mansouri, Davood, Pedraza-Sánchez, Sigifredo, Bondarenko, Anastasia, Espinosa-Padilla, Sara E., Yamazaki-Nakashimada, Marco A., Nieto-Patlán, Alejandro, Kerner, Gaspard, Lambert, Nathalie, Jacques, Corinne, Corvilain, Emilie, Migaud, Mélanie, Grandin, Virginie, Herrera, María T., Jabot-Hanin, Fabienne, Boisson-Dupuis, Stéphanie, Picard, Capucine, Nitschke, Patrick, Puel, Anne, Tores, Frederic, Abel, Laurent, Blancas-Galicia, Lizbeth, De Baere, Elfride, Bole-Feysot, Christine, Casanova, Jean-Laurent, Bustamante, Jacinta

Volltext

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon von Oleaga-Quintas, Carmen, Deswarte, Caroline, Moncada-Vélez, Marcela, Metin, Ayse, Krishna Rao, Indumathi, Kanık-Yüksek, Saliha, Nieto-Patlán, Alejandro, Guérin, Antoine, Gülhan, Belgin, Murthy, Savita, Özkaya-Parlakay, Aslınur, Abel, Laurent, Martínez-Barricarte, Rubén, Pérez de Diego, Rebeca, Boisson-Dupuis, Stéphanie, Kong, Xiao-Fei, Casanova, Jean-Laurent, Bustamante, Jacinta

Volltext

Curation Of Genes Associated with Primary Antibody Deficiencies Using A ClinGen Framework von Nieto-Patlán, Alejandro, Mohan, Shruthi, Ross, Justyne, Paczosa, Michelle, Raval, Forum, Tangye, Stuart G, Abraham, Roshini

Volltext

CTLA4 variant curation using adapted ACMG/AMP guidelines von Hankey, William, Worley, Lindsay, Hilliard, Kyle, McNulty, Shannon, Peng, Xiao, Romberg, Neil, Puel, Anne, Begtrup, Amber, Nieto-Patlán, Alejandro

Volltext

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia von Alodayani, Abdulrahman N., Al-Otaibi, Abdulnasir M., Deswarte, Caroline, Frayha, Husn Habib, Bouaziz, Matthieu, AlHelale, Maryam, Le Voyer, Tom, Nieto-Patlan, Alejandro, Rattina, Vimel, AlZahrani, Mofareh, Halwani, Rabih, Al Sohime, Fahad, Al-Mousa, Hamoud, Al-Muhsen, Saleh, Alhajjar, Sami H., Dhayhi, Nabil S., Abel, Laurent, Casanova, Jean-Laurent, Bin-Hussain, Ibrahim, AlBarrak, May S., Al-Jumaah, Suliman A., Bustamante, Jacinta

Volltext

177 ClinGen Framework for PIK3CD Variant Classification: Use of Adapted ACMG/AMP Guidelines von Nieto-Patlán, Alejandro, Worley, Lindsay, Hankey, William, Hilliard, Kyle, Siew, Justine, Wang, Lijun, Boisson, Bertrand, Maimaris, Jes, Cunningham-Rundles, Charlotte, Jordan, Michael, Ma, Cindy, Peng, Xiao, McLaughlin, Heather, Zelm, Menno van, Lucas, Carrie, Markle, Janet, Puel, Anne, Begtrup, Amber

Volltext

Development and Evaluation of a Set of Spike and Receptor Binding Domain-Based Enzyme-Linked Immunosorbent Assays for SARS-CoV-2 Serological Testing von Camacho-Sandoval, Rosa, Nieto-Patlán, Alejandro, Carballo-Uicab, Gregorio, Montes-Luna, Alejandra, Jiménez-Martínez, María C., Vallejo-Castillo, Luis, González-González, Edith, Arrieta-Oliva, Hugo Iván, Gómez-Castellano, Keyla, Guzmán-Bringas, Omar U., Cruz-Domínguez, María Pilar, Medina, Gabriela, Montiel-Cervantes, Laura A., Gordillo-Marín, Maricela, Vázquez-Campuzano, Roberto, Torres-Longoria, Belem, López-Martínez, Irma, Pérez-Tapia, Sonia M., Almagro, Juan Carlos

Volltext

Impaired respiratory burst contributes to infections in PKCδ-deficient patients von Neehus, Anna-Lena, Moriya, Kunihiko, Nieto-Patlán, Alejandro, Le Voyer, Tom, Lévy, Romain, Özen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Yildiran, Alisan, Altundag, Engin, Roynard, Manon, Haake, Kathrin, Migaud, Mélanie, Dorgham, Karim, Gorochov, Guy, Abel, Laurent, Lachmann, Nico, Dogu, Figen, Haskologlu, Sule, İnce, Erdal, El-Benna, Jamel, Uzel, Gulbu, Kiykim, Ayca, Boztug, Kaan, Roderick, Marion R, Shahrooei, Mohammad, Brogan, Paul A, Abolhassani, Hassan, Hancioglu, Gonca, Parvaneh, Nima, Belot, Alexandre, Ikinciogullari, Aydan, Casanova, Jean-Laurent, Puel, Anne, Bustamante, Jacinta

Volltext

Case Report: p40 phox deficiency underlying pediatric-onset systemic lupus erythematosus von Nieto-Patlán, Alejandro, Fernández Dávila, Natalia S, Wang, Yuqing, Zelnick, Michelle, Muscal, Eyal, Curry, Martha, Lupski, James R, Holland, Steven M, Yuan, Bo, Kuhns, Douglas B, Vogel, Tiphanie P, Chinn, Ivan K

Volltext

Impaired respiratory burst contributes to infections in PKC-deficient patients von Neehus, A-L, Moriya, K, Nieto-Patlan, A, Le, Voyer T, Levy, R, Ozen, A, Karakoc-Aydiner, E, Baris, S, Yildiran, A, Altundag, E

Volltext

Inherited p40^sup phox^ deficiency differs from classic chronic granulomatous disease von van de Geer, Annemarie, van Hamme, John L, van Houdt, Michel, van Leeuwen, Karin, Verkuijlen, Paul J H, van den Berg, Timo K, Alzate, Juan F, Arango-Franco, Carlos A, Batura, Vritika, Bernasconi, Andrea R, Boardman, Barbara, Nieto-Patlán, Alejandro, Booth, Claire, Burns, Siobhan O, Cabarcas, Felipe, Bensussan, Nadine Cerf, Charbit-Henrion, Fabienne, Corveleyn, Anniek, Deswarte, Caroline, Azcoiti, María Esnaola, Foell, Dirk, Gallin, John I, Kuhns, Douglas B, Garcés, Carlos, Guedes, Margarida, Hinze, Claas H, Holland, Steven M, Hughes, Stephen M, Ibañez, Patricio, Malech, Harry L, Meyts, Isabelle, Moncada-Velez, Marcela, Moriya, Kunihiko, Tool, Anton T J, Neves, Esmeralda, Oleastro, Matias, Perez, Laura, Rattina, Vimel, Oleaga-Quintas, Carmen, Warner, Neil, Muise, Aleixo M, López, Jeanet Serafín, Trindade, Eunice, Vasconcelos, Julia, Arias, Andrés A, Vermeire, Séverine, Wittkowski, Helmut, Worth, Austen, Abel, Laurent, Dinauer, Mary C, Arkwright, Peter D, Roos, Dirk, Casanova, Jean-Laurent, Kuijpers, Taco W, Bustamante, Jacinta, Bouaziz, Matthieu, de Boer, Martin, Franco, José Luis, Gazendam, Roel P

Volltext

Novel mutations in NCF4 gene confer non-classic chronic granulomatous disease with disseminated histoplasmosis in a Colombian child von Carlos Andrés Arango-Franco, Alejandro Nieto-Patlán, Marcela Moncada-Vélez, Jesús Armando Álvarez, Carmen Oleaga-Quinta, Caroline Deswarte, Juan Fernando Alzate, Felipe Cabarcas, Carlos Garcés, Julio César Orrego, Susana Pamela Mejía, Luz Elena Cano, Jean-Laurent Casanova, Jacinta Bustamante, José Luis Franco, Andrés Augusto Arias

Volltext

Impaired respiratory burst contributes to infections in PKC-deficient patients von Neehus, Anna-Lena, Moriya, Kunihiko, Nieto-Patlan, Alejandro, Le Voyer, Tom, Levy, Romain, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Yildiran, Alisan, Altundag, Engin, Roynard, Manon, Haake, Kathrin, Migaud, Melanie, Dorgham, Karim, Gorochov, Guy, Abel, Laurent, Lachmann, Nico, Dogu, Figen, Haskologlu, Sule, Ince, Erdal, El-Benna, Jamel, Uzel, Gulbu, Kiykim, Ayca, Boztug, Kaan, Roderick, Marion R, Shahrooei, Mohammad, Brogan, Paul A, Abolhassani, Hassan, Hancioglu, Gonca, Parvaneh, Nima, Belot, Alexandre, Ikinciogullari, Aydan, Casanova, Jean-Laurent, Puel, Anne, Bustamante, Jacinta

Volltext