Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.
Autorzy:
García-García A; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain. Buendia Arellano M; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.; Interdepartmental group of Immunodeficiencies, Madrid, Spain. Deyà-Martínez À; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain. Lozano Blasco J; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain. Serrano M; Pediatric Neurology Department. Hospital Sant Joan de Déu, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. Van Den Rym A; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.; Interdepartmental group of Immunodeficiencies, Madrid, Spain. García-Solis B; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.; Interdepartmental group of Immunodeficiencies, Madrid, Spain. Esteve-Solé A; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain. Yiyi L; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain. Vlagea A; Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain.; Immunology Service, Biomedic Diagnostic Center, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain. Solanich X; Servei de Medicina Interna, Unitat Funcional d'Immunodeficiències Primàries de l'Adult, Hospital Univerisitari de Bellvitge, IDIBELL. L'Hospitalet de Llobregat, Barcelona, Spain. Fisher MR; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA. LyonsJJ; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA. de Diego RP; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.; Interdepartmental group of Immunodeficiencies, Madrid, Spain. Alsina L; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.
Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.
Autorzy:
Nedoszytko B; Department of Dermatology, Allergology and Venereology, Medical University of Gdansk, 80-211 Gdansk, Poland. Arock M; Department of Hematology, APHP, Hôpital Pitié-Salpêtrière and Sorbonne University, 75013 Paris, France.; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Cell Death and Drug Resistance in Hematological Disorders Team, 75006 Paris, France. LyonsJJ; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-188, USA. Bachelot G; Department of Hematology, APHP, Hôpital Pitié-Salpêtrière and Sorbonne University, 75013 Paris, France. Schwartz LB; Department of Internal Medicine, Division of Rheumatology, Allergy & Immunology, Virginia Commonwealth University, Richmond, VA 23298, USA. Reiter A; University Hospital Mannheim, Heidelberg University, 68167 Mannheim, Germany. Jawhar M; University Hospital Mannheim, Heidelberg University, 68167 Mannheim, Germany. Schwaab J; University Hospital Mannheim, Heidelberg University, 68167 Mannheim, Germany. Lange M; Department of Dermatology, Allergology and Venereology, Medical University of Gdansk, 80-211 Gdansk, Poland. Greiner G; Department of Laboratory Medicine, Medical University of Vienna, 1090 Vienna, Austria.; Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, 1090 Vienna, Austria.; Ihr Labor, Medical Diagnostic Laboratories, 1220 Vienna, Austria. Hoermann G; Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, 1090 Vienna, Austria.; MLL Munich Leukemia Laboratory, 81377 Munich, Germany. Niedoszytko M; Department of Allergology, Medical University of Gdansk, 80-211 Gdansk, Poland. Metcalfe DD; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-188, USA. Valent P; Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, 1090 Vienna, Austria.; Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, 1090 Vienna, Austria.
Cyclic lava effusion during the 2018 eruption of Kīlauea Volcano.
Autorzy:
Patrick MR; U.S. Geological Survey, Hawaiian Volcano Observatory, Hilo, HI 96720, USA. . Dietterich HR; U.S. Geological Survey, Alaska Volcano Observatory, Anchorage, AK 99508, USA. LyonsJJ; U.S. Geological Survey, Alaska Volcano Observatory, Anchorage, AK 99508, USA. Diefenbach AK; U.S. Geological Survey, Cascades Volcano Observatory, Vancouver, WA 98683, USA. Parcheta C; U.S. Geological Survey, Hawaiian Volcano Observatory, Hilo, HI 96720, USA. Anderson KR; U.S. Geological Survey, California Volcano Observatory, Menlo Park, CA 94025, USA. Namiki A; School of Integrated Arts and Sciences, Hiroshima University, Higashi Hiroshima, Hiroshima 739-8521, Japan. Sumita I; Graduate School of Natural Science and Technology, Kanazawa University, Kakuma, Kanazawa, 920-1192, Japan. Shiro B; U.S. Geological Survey, Hawaiian Volcano Observatory, Hilo, HI 96720, USA. Kauahikaua JP; U.S. Geological Survey, Hawaiian Volcano Observatory, Hilo, HI 96720, USA.
Pokaż więcej
Źródło:
Science (New York, N.Y.) [Science] 2019 Dec 06; Vol. 366 (6470). Date of Electronic Publication: 2019 Dec 05.
The clinical and mechanistic intersection of primary atopic disorders and inborn errors of growth and metabolism.
Autorzy:
LyonsJJ; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland. Milner JD; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies
