Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

Autor: Urban B; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Batlle-Masó L; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain., Perurena-Prieto J; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Catalonia, Spain., Garcia-Prat M; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Parra-Martínez A; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Aguiló-Cucurull A; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Martinez-Gallo M; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Catalonia, Spain., Moushib L; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Catalonia, Spain., Antolín M; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Medicine Genetics Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Rivière JG; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Soler-Palacin P; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Dieli-Crimi R; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Franco-Jarava C; Immunology Department, Laboratori Clinic ICS Camp de Tarragona, Hospital Joan XXIII, Tarragona, Catalonia, Spain. clfranco.hj23.ics@gencat.cat., Colobran R; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Catalonia, Spain. roger.colobran@vallhebron.cat.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain. roger.colobran@vallhebron.cat.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 Nov 23; Vol. 45 (1), pp. 47. Date of Electronic Publication: 2024 Nov 23.

Current perspectives in the management of sepsis and septic shock.

Autor: Chiscano-Camón L; Intensive Care Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Shock, Organ Dysfunction and Resuscitation Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Departament de Medicina, Universitat Autonoma de Barcelona, Barcelona, Spain., Ruiz-Sanmartin A; Intensive Care Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Shock, Organ Dysfunction and Resuscitation Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Bajaña I; Intensive Care Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Shock, Organ Dysfunction and Resuscitation Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Bastidas J; Intensive Care Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Shock, Organ Dysfunction and Resuscitation Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Lopez-Martinez R; Immunology Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Franco-Jarava C; Immunology Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Gonzalez JJ; Microbiology Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Larrosa N; Microbiology Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Riera J; Intensive Care Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Shock, Organ Dysfunction and Resuscitation Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Nuvials-Casals X; Intensive Care Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Shock, Organ Dysfunction and Resuscitation Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Ruiz-Rodríguez JC; Intensive Care Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Shock, Organ Dysfunction and Resuscitation Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Departament de Medicina, Universitat Autonoma de Barcelona, Barcelona, Spain., Ferrer R; Intensive Care Department, Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Shock, Organ Dysfunction and Resuscitation Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Departament de Medicina, Universitat Autonoma de Barcelona, Barcelona, Spain.

Publikováno v: Frontiers in medicine [Front Med (Lausanne)] 2024 Aug 15; Vol. 11, pp. 1431791. Date of Electronic Publication: 2024 Aug 15 (Print Publication: 2024).

Clinical and functional spectrum of RAC2-related immunodeficiency.

Autor: Donkó Á; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Sharapova SO; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Kabat J; Research Technologies Branch, Biological Imaging Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Ganesan S; Research Technologies Branch, Biological Imaging Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Hauck FH; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Bergerson JRE; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Marois L; Department of Medicine, Centre Hospitalier Universitaire de Montréal and Institut de Recherches Cliniques de Montréal, Université de Montréal, Montreal, QC, Canada.; Department of Medecine, Centre Hospitalier Universitaire de Québec, Université de Laval, Québec, QC, Canada., Abbott J; University of Colorado School of Medicine, Department of Pediatrics, Section of Allergy and Immunology, Children's Hospital of Colorado, Aurora, CO., Moshous D; Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris Centre Université de Paris, Paris, France.; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, INSERM UMR 1163, Paris, France., Williams KW; Department of Pediatrics, Medical University of South Carolina, Charleston, SC., Campbell N; Hôpital Enfant Jésus, CHU de Québec, Québec, QC, Canada., Martin PL; Division of Transplant and Cellular Therapy, Duke University Medical School, Durham, NC., Lagresle-Peyrou C; Université Paris Cité, Imagine Institute, INSERM UMR 1163, Paris, France.; Biotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris, INSERM, Paris, France., Trojan T; Allergy Partners of Oklahama, Stillwater, OK., Kuzmenko NB; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Deordieva EA; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Raykina EV; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Abers MS; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Abolhassani H; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Barlogis V; Pediatric Hematology Unit, La Timone University Hospital, Marseille, France., Milla C; Center for Excellence in Pulmonary Biology, Stanford University School of Medicine, Stanford, CA., Hall G; Department of Pediatrics, Division of Pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC., Mousallem T; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, Durham, NC., Church J; Pediatric Allergy/Immunology, Children's Hospital Los Angeles, Los Angeles, CA.; Clinical Pediatrics, Keck School of Medicine of the University of Southern California, Los Angeles, CA., Kapoor N; Division of Hematology, Oncology and Blood and Marrow Transplant, Children's Hospital Los Angeles, Los Angeles, CA., Cros G; Department of Medicine, Université de Montreal, Montreal, QC, Canada.; Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada., Chapdelaine H; Department of Medicine, Université de Montreal, Montreal, QC, Canada.; Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada., Franco-Jarava C; Department of Immunology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Lopez-Lerma I; Department of Immunology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Miano M; Haematology Unit, Scientific Institute for Research, Hospitalization and Healthcare Istituto Giannina Gaslini, Genoa, Italy., Leiding JW; Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins University, Baltimore, MD.; Institute for Clinical and Translational Research, Johns Hopkins All Children's Hospital, St. Petersburg, FL., Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilian University Munich, Munich, Germany., Stasia MJ; Centre Hospitalier Universitaire Grenoble Alpes, Pôle de Biologie, Centre Diagnostic et Recherche sur la Granulomatose Septique Chronique, Grenoble, France.; Université Grenoble Alpes, Centre National de le Recherche Scientifique, CEA, UMR5075, Institut de Biologie Structurale, Grenoble, France., Fischer A; Université Paris Cité, Imagine Institute, Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Paris, France., Hsiao KC; Department of Immunology, Starship Child Health, Te Whatu Ora, Auckland, New Zealand.; Department of Paediatrics: Child and Youth Health, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand., Martelius T; Inflammation Center/Infectious Diseases, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland., Seppänen MRJ; Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.; ERN-RITA Core Center Member, RITAFIN, Helsinki, Finland.; Rare Disease Center and Pediatric Research Center, Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.; Translational Immunology Research Program, University of Helsinki, Helsinki, Finland., Barmettler S; Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Boston, MA., Walter J; University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL., Masmas TN; Pediatric Hematopoietic Stem Cell Transplantation and Immunodeficiency, The Child and Adolescent Department, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Mukhina AA; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Falcone EL; Center for Inflammation, Immunity and Infectious Diseases, Montreal Clinical Research Institute, Montreal, QC, Canada.; Department of Medicine, Université de Montréal, Montreal, QC, Canada.; Department of Microbiology, Infectious Diseases and Immunology, Université de Montréal, Montreal, QC, Canada., Kracker S; Université Paris Cité, Imagine Institute, Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Paris, France., Shcherbina A; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Leto TL; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Hsu AP; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

Publikováno v: Blood [Blood] 2024 Apr 11; Vol. 143 (15), pp. 1476-1487.

Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease.

Autor: Franco‐Jarava, C.¹, Comas, D.², Orren, A.^3,4,5, Hernández‐González, M.¹, Colobran, R.¹ rcolobran@vhebron.net

Publikováno v: Clinical & Experimental Immunology. Aug2017, Vol. 189 Issue 2, p226-231. 7p. 3 Charts, 1 Graph.

Reference values for interleukin-6 in the amniotic fluid of asymptomatic pregnant women.

Autor: Del Barco E; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Franco-Jarava C; Immunology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Vargas M; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Maíz N; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Arevalo S; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Sánchez MÁ; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Avilés MT; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Rodó C; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Mendoza M; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Goya M; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Maternal and Child Health and Development Network (SAMID), Instituto Salud Carlos III, Madrid, Spain., Hernández-González M; Immunology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Carreras E; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Maternal and Child Health and Development Network (SAMID), Instituto Salud Carlos III, Madrid, Spain.

Publikováno v: Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2023 Apr; Vol. 102 (4), pp. 480-485.