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1. Full Text Lambda Interferon Renders Epithelial Cells of the Respiratory and Gastrointestinal Tracts Resistant to Viral Infections
by Markus Mordstein and Eva Neugebauer and Vanessa Ditt and Birthe Jessen and Toni Rieger and Valeria Falcone and Frederic Sorgeloos and Stephan Ehl and Daniel Mayer and Georg Kochs and Martin Schwemmle and Stephan Günther and Christian Drosten and Thomas Michiels and Peter Staeheli
Journal of Virology, ISSN 0022-538X, 06/2010, Volume 84, Issue 11, pp. 5670 - 5677
Life Sciences & Biomedicine | Science & Technology | Virology | Gastrointestinal Tract - virology | Virus Diseases - immunology | Receptors, Interferon - deficiency | Humans | Immunity, Innate | Mice, Knockout | Gastrointestinal Tract - immunology | Respiratory System - virology | Animals | Epithelial Cells - virology | Mice | Respiratory System - immunology | Cytokines - immunology | Index Medicus | Pathogenesis and Immunity
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2. Full Text Etoposide for HLH: The limits of efficacy
by Ehl, Stephan
Blood, ISSN 0006-4971, 12/2017, Volume 130, Issue 25, pp. 2692 - 2693
Life Sciences & Biomedicine | Hematology | Science & Technology | Etoposide | Epstein-Barr Virus Infections | Humans | Lymphohistiocytosis, Hemophagocytic | Index Medicus | Abridged Index Medicus
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3. Full Text Diagnostic evaluation of patients with suspected haemophagocytic lymphohistiocytosis
by Lehmberg, Kai and Ehl, Stephan
British journal of haematology, ISSN 0007-1048, 02/2013, Volume 160, Issue 3, pp. 275 - 287
haemophagocytic lymphohistiocytosis | diagnosis | degranulation | cytotoxicity | Haemophagocytic lymphohistiocytosis | Degranulation | Cytotoxicity | Diagnosis | Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Biological and medical sciences | Medical sciences | Tumors | Lymphohistiocytosis, Hemophagocytic - etiology | Lymphohistiocytosis, Hemophagocytic - diagnosis | Diagnosis, Differential | Humans | Lymphohistiocytosis, Hemophagocytic - classification | Analysis | Transplantation | Hematopoietic stem cells | Index Medicus
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4. Full Text The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity
by Seidel, Markus G and Kindle, Gerhard and Gathmann, Benjamin and Quinti, Isabella and Buckland, Matthew and van Montfrans, Joris and Scheible, Raphael and Rusch, Stephan and Gasteiger, Lukas M and Grimbacher, Bodo and Mahlaoui, Nizar and Ehl, Stephan and Abinun, Mario and Albert, Michael and Cohen, Sarah Beaussant and Bustamante, Jacinta and Cant, Andrew and Casanova, Jean-Laurent and Chapel, Helen and de Saint Basile, Genevieve and de Vries, Esther and Dokal, Inderjeet and Donadieu, Jean and Durandy, Anne and Edgar, David and Espanol, Teresa and Etzioni, Amos and Fischer, Alain and Gaspar, Bobby and Gatti, Richard and Gennery, Andrew and Grigoriadou, Sofia and Holland, Steven and Janka, Gritta and Kanariou, Maria and Klein, Christoph and Lachmann, Helen and Lilic, Desa and Manson, Ania and Martinez, Natalia and Meyts, Isabelle and Moes, Nicolette and Moshous, Despina and Neven, Benedicte and Ochs, Hans and Picard, Capucine and Renner, Ellen and Rieux-Laucat, Frederic and Seger, Reinhard and Soresina, Annarosa and Stoppa-Lyonnet, Dominique and Thon, Vojtech and Thrasher, Adrian and van de Veerdonk, Frank and Villa, Anna and Weemaes, Corry and Warnatz, Klaus and Wolska, Beata and Zhang, Shen-Yin and ESID Registry Working Party and collaborators and ESID Registry Working Party Coll
The journal of allergy and clinical immunology in practice (Cambridge, MA), ISSN 2213-2198, 07/2019, Volume 7, Issue 6, pp. 1763 - 1770
Primary immune deficiency and immune dysregulation disorder (PIDD) | Primary immunodeficiency (PID) | Classification | Guideline | Registry | Diagnostic algorithm | Epidemiology | Consensus | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Common variable immunodeficiency | Bacterial infections | Disease | Clinical trials | Infections | Genomes | Medical screening | Patients | Genetic screening | Lymphocytes | Diagnosis | Index Medicus
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5. Full Text Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation
by Pannicke, Ulrich and Baumann, Bernd and Fuchs, Sebastian and Henneke, Philipp and Rensing-Ehl, Anne and Rizzi, Marta and Janda, Ales and Hese, Katrin and Schlesier, Michael and Holzmann, Karlheinz and Borte, Stephan and Laux, Constanze and Rump, Eva-Maria and Rosenberg, Alan and Zelinski, Teresa and Schrezenmeier, Hubert and Wirth, Thomas and Ehl, Stephan and Schroeder, Marlis L and Schwarz, Klaus
The New England journal of medicine, ISSN 0028-4793, 12/2013, Volume 369, Issue 26, pp. 2504 - 2514
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | T-Lymphocytes - physiology | I-kappa B Kinase - deficiency | Agammaglobulinemia - genetics | Lymphocyte Activation | Humans | Immunity, Innate - genetics | B-Lymphocytes - physiology | Infant | Male | I-kappa B Kinase - genetics | Genes, Recessive | Sequence Analysis, DNA | Adaptive Immunity - genetics | Severe Combined Immunodeficiency - genetics | Pedigree | Fatal Outcome | Lymphocyte Count | Female | Indians, North American | Mutation | Infant, Newborn | Causes of | Gene mutations | Severe combined immunodeficiency | Risk factors | Transcription factors | IKK2 protein | Cytokine receptors | Innate immunity | Lymphocytes T | Hypogammaglobulinemia | Kinases | Immunity (cell-mediated) | IKK protein | Signal transduction | Airway management | Cell activation | Immunology | Peripheral blood | Toll-like receptors | Immunity (humoral) | Immune system | NF-κB protein | Medical research | Phenotypes | Immunoregulation | Agammaglobulinemia | Inflammation | Embryos | Lymphocytes B | Chromosome 8 | Gene mapping | Mitogens | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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6. Full Text XIAP deficiency is a mendelian cause of late-onset IBD
by Speckmann, Carsten and Ehl, Stephan
Gut, ISSN 0017-5749, 06/2014, Volume 63, Issue 6, pp. 1031 - 1032
Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease - genetics | Humans | Inflammatory Bowel Diseases - genetics | Protein expression | Mutation | Patients | Bowel disease | Index Medicus | Abridged Index Medicus
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7. Full Text Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis
by Speckmann, Carsten, MD and Neumann, Carla, MD and Borte, Stephan, MD and la Marca, Giancarlo, PharmSc and Sass, Jörn Oliver, Dr.rer.nat and Wiech, Elisabeth, PhD and Fisch, Paul, MD and Schwarz, Klaus, MD and Buchholz, Bernd, MD and Schlesier, Michael, PhD and Felgentreff, Kerstin, MD and Grimbacher, Bodo, MD and Santisteban, Ines, PhD and Bali, Pawan, PhD and Hershfield, Michael S., MD and Ehl, Stephan, MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 4, pp. 991 - 994
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Purines and pyrimidines (gout, hyperuricemia...) | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Other metabolic disorders | Biological and medical sciences | Metabolic diseases | Medical sciences | Enzyme Replacement Therapy | Adenosine Deaminase - genetics | Humans | Adult | Genotype | Adenosine Deaminase - deficiency | Child | Early Diagnosis | Immunogenetics | Diagnosis | Universities and colleges | Mass spectrometry | Immunodeficiency | Genotype & phenotype | Lung diseases | T cell receptors | Mutation | Tetanus | Medical screening | Patients | Immune system | Asthma | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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8. Full Text The German national registry of primary immunodeficiencies (2012–2017)
by El-Helou, Sabine M and Biegner, Anika-Kerstin and Bode, Sebastian and Ehl, Stephan R and Heeg, Maximilian and Maccari, Maria E and Ritterbusch, Henrike and Speckmann, Carsten and Rusch, Stephan and Scheible, Raphael and Warnatz, Klaus and Atschekzei, Faranaz and Beider, Renata and Ernst, Diana and Gerschmann, Stev and Jablonka, Alexandra and Mielke, Gudrun and Schmidt, Reinhold E and Schürmann, Gesine and Sogkas, Georgios and Baumann, Ulrich H and Klemann, Christian and Viemann, Dorothee and von Bernuth, Horst and Krüger, Renate and Hanitsch, Leif G and Scheibenbogen, Carmen M and Wittke, Kirsten and Albert, Michael H and Eichinger, Anna and Hauck, Fabian and Klein, Christoph and Rack-Hoch, Anita and Sollinger, Franz M and Avila, Anne and Borte, Michael and Borte, Stephan and Fasshauer, Maria and Hauenherm, Anja and Kellner, Nils and Müller, Anna H and Ülzen, Anett and Bader, Peter and Bakhtiar, Shahrzad and Lee, Jae-Yun and Heß, Ursula and Schubert, Ralf and Wölke, Sandra and Zielen, Stefan and Ghosh, Sujal and Laws, Hans-Juergen and Neubert, Jennifer and Oommen, Prasad T and Hönig, Manfred and Schulz, Ansgar and Steinmann, Sandra and Schwarz, Klaus and Dückers, Gregor and Lamers, Beate and Langemeyer, Vanessa and Niehues, Tim and Shai, Sonu and Graf, Dagmar and Müglich, Carmen and Schmalzing, Marc T and Schwaneck, Eva C and Tony, Hans-Peter and Dirks, Johannes and Haase, Gabriele and Liese, Johannes G and Morbach, Henner and Foell, Dirk and Hellige, Antje and Wittkowski, Helmut and Masjosthusmann, Katja and Mohr, Michael and Geberzahn, Linda and Hedrich, Christian M and Müller, Christiane and Rösen-Wolff, Angela and Roesler, Joachim and Zimmermann, Antje and Behrends, Uta and Rieber, Nikolaus and Schauer, Uwe and Handgretinger, Rupert and Holzer, Ursula and Henes, Jörg and Kanz, Lothar and Boesecke, Christoph and Rockstroh, Jürgen K and Schwarze-Zander, Carolynne and Wasmuth, Jan-Christian and Dilloo, Dagmar and Hülsmann, Brigitte and Schönberger, Stefan and Schreiber, Stefan and Zeuner, Rainald and Ankermann, Tobias and von Bismarck, Philipp and ...
Frontiers in immunology, ISSN 1664-3224, 2019, Volume 10, pp. 1272 - 1272
CVID | IgG substitution therapy | PID prevalence | European Society for Immunodeficiencies (ESID) | Primary immunodeficiency (PID) | Registry for primary immunodeficiency | German PID-NET registry | Life Sciences & Biomedicine | Immunology | Science & Technology | Usage | Transplantation | Diagnosis | Risk factors | Hematopoietic stem cells | Immunodeficiency | Index Medicus | registry for primary immunodeficiency | primary immunodeficiency (PID)
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9. Full Text Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
by Dorjbal, Batsukh and Stinson, Jeffrey R and Ma, Chi A and Weinreich, Michael A and Miraghazadeh, Bahar and Hartberger, Julia M and Frey-Jakobs, Stefanie and Weidinger, Stephan and Moebus, Lena and Franke, Andre and Schäffer, Alejandro A and Bulashevska, Alla and Fuchs, Sebastian and Ehl, Stephan and Limaye, Sandhya and Arkwright, Peter D and Briggs, Tracy A and Langley, Claire and Bethune, Claire and Whyte, Andrew F and Alachkar, Hana and Nejentsev, Sergey and DiMaggio, Thomas and Nelson, Celeste G and Stone, Kelly D and Nason, Martha and Brittain, Erica H and Oler, Andrew J and Veltri, Daniel P and Leahy, T. Ronan and Conlon, Niall and Poli, Maria C and Borzutzky, Arturo and Cohen, Jeffrey I and Davis, Joie and Lambert, Michele P and Romberg, Neil and Sullivan, Kathleen E and Paris, Kenneth and Freeman, Alexandra F and Lucas, Laura and Chandrakasan, Shanmuganathan and Savic, Sinisa and Hambleton, Sophie and Patel, Smita Y and Jordan, Michael B and Theos, Amy and Lebensburger, Jeffrey and Atkinson, T. Prescott and Torgerson, Troy R and Chinn, Ivan K and Milner, Joshua D and Grimbacher, Bodo and Cook, Matthew C and Snow, Andrew L
Journal of allergy and clinical immunology, ISSN 0091-6749, 04/2019, Volume 143, Issue 4, pp. 1482 - 1495
atopy | primary immunodeficiency | atopic dermatitis | CARD11 | dominant negative | immune dysregulation | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | CARD Signaling Adaptor Proteins - immunology | Phenotype | Guanylate Cyclase - immunology | Immune System Diseases - genetics | Humans | Immune System Diseases - immunology | Adult | Female | Guanylate Cyclase - genetics | Male | Mutation | CARD Signaling Adaptor Proteins - genetics | Genetic aspects | TOR protein | Coils | Transcription factors | Common variable immunodeficiency | Transcription | Anergy | Genes | Lymphocytes T | Genomes | Kinases | Atopy | Defects | Recruitment | Proteins | Cell activation | Lymphocytes | Deoxyribonucleic acid--DNA | Neutropenia | Immune system | Phenotypes | Sequences | c-Jun protein | Caspase | JNK protein | Rapamycin | Cytokinesis | Domains | Human subjects | Signaling | Lymphocytes B | Genetic testing | Index Medicus | Abridged Index Medicus
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10. Full Text Translating the Genomic Revolution — Targeted Genome Editing in Primates
by Cathomen, Toni and Ehl, Stephan
The New England journal of medicine, ISSN 0028-4793, 06/2014, Volume 370, Issue 24, pp. 2342 - 2345
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Gene Targeting - methods | Endonucleases - genetics | Primates - genetics | Animals | Animals, Genetically Modified | Embryo, Mammalian | Genomics | Models, Animal | Clustered Regularly Interspaced Short Palindromic Repeats - genetics | RNA, Guide | Genome | Macaca - genetics | Proteins | Enzymes | Disease | Genes | Primates | Genomes | Mutation | Gene therapy | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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11. Full Text The NEW ESID online database network
by Scheible, Raphael and Rusch, Stephan and Guzman, David and Mahlaoui, Nizar and Ehl, Stephan and Kindle, Gerhard
BIOINFORMATICS, ISSN 1367-4803, 12/2019, Volume 35, Issue 24, pp. 5367 - 5369
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Index Medicus
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