Results 71 to 80 of about 2,682,884 (340)
Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]
, 2001 Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer Clements JA, Crouch E, deMello DE, Dirksen U, Doyle IR, Fisher JH, Floros J, Glasser SW, Green D, Hawgood S, Ikegami M, Ikegami M, Ikegami M, Kitamura T, Kresch MJ, Madan T, Mahut B, Mason RJ, Myrianthopoulos NC, Nogee LM, Pilot-Matias TJ, Power JHT, Prakash UBS, Reed JA, Robertson B, Rosen SH, Stoll BJ, Tredano M, Vorbroker DK, Wang J-Y +29 morecore +1 more sourceDisseminated mycobacterial infections after tumor necrosis factor inhibitor use, revealing inborn errors of immunity
International Journal of Infectious Diseases, 2023 Tumor necrosis factor-a inhibitors can be associated with increased risk of infections, particularly reactivation of latent tuberculosis or nontuberculous mycobacterium (NTM). However, because disseminated NTM is rare, inborn errors of immunity should be Jacqueline D. Squire, Claudia R. Libertin, Harry Powers, Jared Nelson, Lisa Brumble, Federico R. Laham, Anahita Agharahimi, Alexandra F. Freeman, Jennifer W. Leiding +8 moredoaj Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria [PDF]
, 2023 Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1.Abel, Laurent, Ahmad Ata, Manar Mahmoud, Al Ali, Fatima, Alyanakian, Marie-Alexandra, Bailey, Rasheed, Bastard, Paul, Bohlen, Jonathan, Boisson-Dupuis, Stéphanie, Bourgey, Mathieu, Bustamante, Jacinta, Béziat, Vivien, Casanova, Jean-Laurent, Chan, Yi-Hao, Cheung, Andrew, Croft, Carys A, Daher, Wassim, Di Santo, James P, Doisne, Jean-Marc, Emile, Jean-François, Fritz, Jörg H, González, María Laura, Gros, Philippe, Guérin, Antoine, Haake, Kathrin, Han, Ji Eun, Heissel, Søren, Hong, Seon-Hui, Izquierdo, Helena M, Jeljeli, Mohamed, Kendir-Demirkol, Yasemin, Khan, Taushif, Kremer, Laurent, L'Honneur, Anne-Sophie, Lachmann, Nico, Langlais, David, Le Pen, Jérémie, Le Voyer, Tom, Lee, Danyel, Lemon, Stanley M, Liu, Zhiyong, Lorenzo, Lazaro, Lévy, Romain, Ma, Cindy S, MacDonald, Margaret R, Manel, Nicolas, Manry, Jérémy, Marr, Nico, Martínez-Barricarte, Rubén, Materna, Marie, Michev, Alexandre, Migaud, Mélanie, Mindt, Barbara C, Molina, Henrik, Moncada-Vélez, Marcela, Neehus, Anna-Lena, Ogishi, Masato, Oleaga-Quintas, Carmen, Paz, María Elvira Josefina, Peel, Jessica N, Philippot, Quentin, Pochon, Mathieu, Pérez, Laura, Rahman, Mahbuba, Rapaport, Franck, Rice, Charles M, Rinchai, Darawan, Roelens, Marie, Romana, Serge, Rosain, Jérémie, Rozenberg, Flore, Seeleuthner, Yoann, Shirasaki, Takayoshi, Soudée, Camille, Soulier, Jean, Spaan, András N, Tahuil, Natalia, Tangye, Stuart G, Türel, Özden, Vogt, Guillaume, Yang, Rui, Zhang, Peng, Zhang, Qian, Zhang, Shen-Ying, Zhao, Shuxiang +83 morecore Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R +18 morecore Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes [PDF]
, 2022 In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies: An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with infections.Boz, Valentina, Levantino, Laura, Riccio, Guglielmo, Tommasini, Alberto, Zanchi, Chiara +4 morecore +1 more sourceCuration and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity [PDF]
, 2022 BACKGROUND
Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, et al, Haimel, Matthias, Heredia, Raúl Jiménez, Pazmandi, Julia, Trück, Johannes +4 morecore +4 more sourcesIL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey [PDF]
, 2011 BACKGROUND AND OBJECTIVES: In the last decade, autosomal recessive IL-12Rβ1 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from Morocco, Spain, and Turkey, providing proof-of-principle that ...A Alcais, A Alcais, A Bolze, A Chapgier, A Cobat, A Fortin, AA Alangari, Alexandre Alcais, Alireza Mahdaviani, Amal Hassani, Arina Samarina, Audrey V. Grant, Ayper Somer, Aziz Bousfiha, C Fieschi, C von Pirquet, Caner Aytekin, Cigdem Aydogmus, CW Duval, Daniel Nolan, Davood Mansouri, E Jouanguy, E Schurr, E Tuncbilek, EL Opie, F Altare, F Altare, G Vogt, GO Tadmouri, Gonul Tanir, Guside Aksu, I Caragol, J Bustamante, Jacinta Bustamante, Jacqueline Feinberg, Jamila El Baghdadi, JE Baghdadi, Jean-Laurent Casanova, Jilali Najib, JL Casanova, JL Casanova, K Pearson, K Ranke, L De Beaucoudrey, Laurent Abel, Lucile Janniere, M Byun, M Saadat, Melike Keser, N Ozbek, Naima El Hafidi, Necil Kutukculer, Nevin Hatipoglu, Nima Parvaneh, O Filipe-Santos, O Sanal, OF Von Verschuer, P Tabarsi, Pere-Joan Cardona, R Bellamy, R Pfuffer, S Dupuis, S Hambleton, SB Ng, SD Rosenzweig, Setareh Mamishi, SM Holland, Stéphanie Boisson-Dupuis, T Smith, T Thye, WC White, Yildiz Camcioglu +71 morecore +3 more sourcesCoronavirus disease 2019 in patients with inborn errors of immunity: an international study [PDF]
, 2020 Background: There is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This Abraham R. S., Agostini C., Aiuti A., Badolato R., Baris S., Barzaghi F., Bezrodnik L., Bosteels C., Bucciol G., Cunningham-Rundles C., Dalm V. A., Demirdag Y. Y., Espinosa Y., Espinosa-Padilla S., Fieschi C., Fischer A., Freeman A. F., Gennery A. R., Gianelli C., Gonzalez-Granado L. I., Guevara-Hoyer K., Gupta S., Hauck F., Hayman G. R., Jeandel P. -Y., Jolles S., Karakoc-Aydiner E., Keller M., Lambrecht B. N., Lopez-Granados E., Lougaris V., Mahlaoui N., Mendonca L. O., Meyts I., Milito C., Mustillo P. J., Neven B., Ozen A., Paillard C., Plebani A., Poli M. C., Quinti I., Robles-Marhuenda A., Sanchez-Ramon S., Sankaran V. G., Scheffler-Mendoza S., Seoane E., Soresina A., Spadaro G., Sullivan K. E., Tangye S. G., Uzel G., Vermeulen F., Warnatz K., Yamazaki-Nakashimada M. +54 morecore +1 more sourceCRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies
WIREs Mechanisms of Disease, Volume 15, Issue 1, January/February 2023., 2023 CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract
CRISPR gene‐editing technology creates precise and permanent modifications to DNA.Yu C. J. Chey, Jayshen Arudkumar, Annemieke Aartsma‐Rus, Fatwa Adikusuma, Paul Q. Thomas +4 morewiley +1 more source
