Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Autor: Zhen X; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center., Betti M; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center., Kars ME; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai., Patterson A; Division of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center., Medina-Torres EA; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat., Scheffler Mendoza SC; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat., Herrera Sánchez DA; Specialty Hospital, National Medical Center XXI Century., Lopez-Herrera G; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat., Svyryd Y; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán., Mutchinick O; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán., Gamazon E; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center., Rathmell J; Division of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center., Itan Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai., Markle J; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center., O'Farrill Romanillos P; Specialty Hospital, National Medical Center XXI Century., Lugo-Reyes SO; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat., Martinez-Barricarte R; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center.

Publikováno v: Research square [Res Sq] 2024 Jul 11. Date of Electronic Publication: 2024 Jul 11.

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Autor: Zhen X; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Division of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Betti MJ; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Kars ME; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Patterson A; Division of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA., Medina-Torres EA; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Scheffler Mendoza SC; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Herrera Sánchez DA; Specialty Hospital, National Medical Center XXI Century, Mexico City, Mexico., Lopez-Herrera G; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Svyryd Y; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Mutchinick OM; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Gamazon E; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Rathmell JC; Division of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA.; Vanderbilt Institute for Infection, Immunology and Inflammation, Nashville, TN, USA., Itan Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Markle J; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Division of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA.; Vanderbilt Institute for Infection, Immunology and Inflammation, Nashville, TN, USA., O'Farrill Romanillos P; Specialty Hospital, National Medical Center XXI Century, Mexico City, Mexico., Lugo-Reyes SO; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Martinez-Barricarte R; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Division of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Center for Immunobiology, Nashville, TN, USA.; Vanderbilt Institute for Infection, Immunology and Inflammation, Nashville, TN, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 14. Date of Electronic Publication: 2024 May 14.

Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.

Autor: Vásquez-Echeverri E; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Yamazaki-Nakashimada MA; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Venegas Montoya E; Immunology Service, Unidad Médica de Alta Especialidad, Monterrey, Nuevo Leon, Mexico., Scheffler Mendoza SC; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Castano-Jaramillo LM; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico; Fundación Hospital de la Misericordia, Bogotá, Colombia., Medina-Torres EA; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., González-Serrano ME; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Espinosa-Navarro M; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Bustamante Ogando JC; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., González-Villarreal MG; Hematology Service, Unidad Médica de Alta Especialidad, Monterrey, Nuevo Leon, Mexico., Ortega Cisneros M; Allergy and Clinical Immunology Service, Unidad Médica de Alta Especialidad, Centro Médico Nacional de Occidente IMSS, Guadalajara, Jalisco, Mexico., Valencia Mayoral PF; Pathology Department, Hospital Infantil de Mexico 'Dr Federico Gomez,' Mexico City, Mexico., Consuelo Sanchez A; Pediatric Gastroenterology and Nutrition Department, Hospital Infantil de Mexico 'Dr Federico Gomez,' Mexico City, Mexico., Varela-Fascinetto G; Transplantation Department, Hospital Infantil de Mexico 'Dr Federico Gomez,' Mexico City, Mexico., Ramírez-Uribe RMN; Stem Cell Transplantation Unit, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Salazar Gálvez Y; Immunology Service, Unidad Médica de Alta Especialidad, Monterrey, Nuevo Leon, Mexico., Bonifaz Alonzo LC; Immunochemistry Research Unit, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, IMSS, Mexico City, Mexico., Fuentes-Pananá EM; Research Unit on Virology and Cancer, Hospital Infantil de Mexico 'Dr Federico Gomez,' Mexico City, Mexico., Gómez Hernández N; Allergy and Clinical Immunology Service, Unidad Médica de Alta Especialidad, Centro Médico Nacional de Occidente IMSS, Guadalajara, Jalisco, Mexico., Rojas Maruri CM; Pathology Department, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Casanova JL; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York City, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France; Imagine Institute, University of Paris, Paris, France; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute, Paris, France., Espinosa-Padilla SE; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico. Electronic address: saraelvaespino@gmail.com., Staines Boone AT; Immunology Service, Unidad Médica de Alta Especialidad, Monterrey, Nuevo Leon, Mexico. Electronic address: tamarastaines@gmail.com., López-Velázquez G; Laboratory of Biomolecules and Infant Health, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Boisson B; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York City, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France; Imagine Institute, University of Paris, Paris, France., Lugo Reyes SO; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico. Electronic address: dr.lugo.reyes@gmail.com.

Publikováno v: The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2023 Apr; Vol. 11 (4), pp. 1261-1280.e8. Date of Electronic Publication: 2023 Jan 25.

Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.

Autor: Peñafiel Vicuña AK; Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico., Yamazaki Nakashimada M; Immunology Department, National Institute of Pediatrics, Mexico City, Mexico., León Lara X; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico., Mendieta Flores E; Allergy and Immunology Department, IMSS, 'Centro Médico La Raza', Mexico City, Mexico., Nuñez Núñez ME; Allergy and Immunology Department, Nuevo Hospital Civil de Guadalajara', Guadalajara, Jalisco, Mexico., Lona-Reyes JC; Infectious Disease Department, 'Hospital Civil de Guadalajara Dr. Juan I Menchaca', Guadalajara, Jalisco, Mexico., Hernández Nieto L; Clinical Immunology Department, 'Hospital Juárez de México', Mexico City, Mexico., Ramírez Vázquez MG; Allergy and Immunology Department, 'Hospital de Niño DIF Hidalgo', Pachuca, Hidalgo, Mexico., Barroso Santos J; Allergy and Immunology Department, 'Hospital de Niño DIF Hidalgo', Pachuca, Hidalgo, Mexico., López Iñiguez Á; Infectious Disease Department, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., González Y; Microbiology Department, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico., Torres M; Tuberculosis Immunobiology Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas', Mexico City, Mexico., Lezana Fernández JL; Pulmonary Physiology Laboratory, 'Hospital Infantil de México Federico Gómez', Mexico City, Mexico., Román Montes CM; Clinical Microbiology Laboratory, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Infectious Disease Department, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Medina-Torres EA; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico., González Serrano E; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico., Bustamante Ogando JC; Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico., Lugo Reyes S; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico., Zavaleta Martínez O; Allergy and Immunology Department, ISSEMYN, Toluca, Estado de México, Mexico., Staines Boone AT; Immunology Department, 'Unidad Médica de Alta Especialidad' # 25, IMSS, Monterrey, Mexico., Venegas Montoya E; Immunology Department, 'Unidad Médica de Alta Especialidad' # 25, IMSS, Monterrey, Mexico., Aguilar Gómez NE; Infectious Disease Department, National Institute of Pediatrics, Mexico City, Mexico., Soudeé C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University, Paris, France., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Pedraza Sánchez S; Biochemistry Unit, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France., Espinosa Rosales F; FUMENI A.C., Mexico City, Mexico., Espinosa Padilla S; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France., Blancas Galicia L; Research Unit for Immunodeficiencies, National Institute of Pediatrics, 1 Iman Avenue, Floor 9, 04530, Mexico City, Mexico. blancas.lizbeth@gmail.com.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2023 Jan; Vol. 43 (1), pp. 123-135. Date of Electronic Publication: 2022 Aug 31.

Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility.

Autor: Lopez-Rivera DO; Molecular Immunology laboratory at the Faculty of Medicine, Universidad Autonoma del Estado de Morelos, Cuernavaca, Mexico., Castano-Jaramillo LM; Pediatric Immunology Department, Fundación Hospital de la Misericordia (HOMI) Hospital de la Misericordia, Bogotá, Colombia.; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Yamazaki-Nakashimada MA; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Ramirez Uribe RMN; Stem-cell Transplant Unit, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Corcuera Delgado CT; Pathology Department, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Ignorosa-Arellano KR; Gastroenterology Department, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Medina-Torres EA; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Berrón Ruiz L; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Espinosa-Padilla SE; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Scheffler-Mendoza SC; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., López-Velázquez G; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico., Cruz-Munoz ME; Molecular Immunology laboratory at the Faculty of Medicine, Universidad Autonoma del Estado de Morelos, Cuernavaca, Mexico., Lugo Reyes SO; Immune Deficiencies Laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.

Publikováno v: Frontiers in immunology [Front Immunol] 2022 Sep 27; Vol. 13, pp. 959733. Date of Electronic Publication: 2022 Sep 27 (Print Publication: 2022).