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1. Dysregulation of Cell Death in Human Chronic Inflammation
by Li, Yue and Klein, Christoph and Kotlarz, Daniel
Cold Spring Harbor perspectives in biology, ISSN 1943-0264, 07/2020, Volume 12, Issue 7
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Tumor necrosis factor receptors | Wound healing | Cell survival | Mortality | Immunodeficiency | Disorders | Inflammation | Allergies | Biological activity | Signaling | Cell death | Tumor necrosis factor | Tumor necrosis factor receptor 1 | Tumor necrosis factor-TNF | Apoptosis
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2. Full Text Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
by Glocker, Erik-Oliver and Kotlarz, Daniel and Boztug, Kaan and Gertz, E. Michael and Schäffer, Alejandro A and Noyan, Fatih and Perro, Mario and Diestelhorst, Jana and Allroth, Anna and Murugan, Dhaarini and Hätscher, Nadine and Pfeifer, Dietmar and Sykora, Karl-Walter and Sauer, Martin and Kreipe, Hans and Lacher, Martin and Nustede, Rainer and Woellner, Cristina and Baumann, Ulrich and Salzer, Ulrich and Koletzko, Sibylle and Shah, Neil and Segal, Anthony W and Sauerbrey, Axel and Buderus, Stephan and Snapper, Scott B and Grimbacher, Bodo and Klein, Christoph
The New England journal of medicine, ISSN 0028-4793, 11/2009, Volume 361, Issue 21, pp. 2033 - 2045
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Gastroenterology. Liver. Pancreas. Abdomen | Stomach. Duodenum. Small intestine. Colon. Rectum. Anus | Biological and medical sciences | General aspects | Medical sciences | Other diseases. Semiology | Tumor Necrosis Factor-alpha - metabolism | Humans | Infant | Male | Mutation, Missense | Remission Induction | Sequence Analysis, DNA | Stem Cell Transplantation | Interleukin-10 Receptor alpha Subunit - chemistry | Interleukin-10 Receptor beta Subunit - chemistry | Interleukin-10 Receptor alpha Subunit - genetics | Pedigree | Age of Onset | Inflammatory Bowel Diseases - genetics | Interleukin-10 - metabolism | Female | Chromosomes, Human, Pair 11 | Polymorphism, Single Nucleotide | Interleukin-10 Receptor beta Subunit - genetics | Chromosomes, Human, Pair 21 | Inflammatory Bowel Diseases - therapy | Genetic Linkage | Intestines | Inflammatory bowel diseases | Care and treatment | Interleukin-10 | Gene mutations | Analysis | Physiological aspects | Genetic aspects | Diagnosis | Health aspects | Inflammatory bowel disease | Proteins | Studies | Ostomy | Cytokines | Lymphocytes | Ear diseases | Immune system | Index Medicus | Abridged Index Medicus
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3. Full Text Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
by Nekooie-Marnany, Nioosha and Deswarte, Caroline and Ostadi, Vajiheh and Bagherpour, Bahram and Taleby, Elaheh and Ganjalikhani-Hakemi, Mazdak and Le Voyer, Tom and Rahimi, Hamid and Rosain, Jérémie and Pourmoghadas, Zahra and Sheikhbahaei, Saba and Khoshnevisan, Razieh and Petersheim, Daniel and Kotlarz, Daniel and Klein, Christoph and Boisson-Dupuis, Stéphanie and Casanova, Jean-Laurent and Bustamante, Jacinta and Sherkat, Roya
Journal of clinical immunology, ISSN 0271-9142, 10/2018, Volume 38, Issue 7, pp. 787 - 793
(BCG)-osis | IL-12 | interferon | Mendelian susceptibility to mycobacterial disease | Bacillus Calmette–Guérin vaccination | Osteomyelitis | γ-Interferon | Interleukin 1 | BCG | Interleukin 12 | Interleukin 23 | Lymphocytes T | Mutation | Index Medicus | Bacillus Calmette-Guérin vaccination
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4. Full Text The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease
by Dhingani, Neel and Guo, Conghui and Pan, Jie and Li, Qi and Warner, Neil and Jardine, Sasha and Leung, Gabriella and Kotlarz, Daniel and Gonzaga-Jauregui, Claudia and Klein, Christoph and Snapper, Scott B and Navas-Lopez, Victor Manuel and Muise, Aleixo M
Scientific reports, ISSN 2045-2322, 10/2020, Volume 10, Issue 1, pp. 18648 - 18648
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Inflammatory bowel disease | Ubiquitin | Inflammatory bowel diseases | Intestine | Immunodeficiency | Colitis | Ubiquitin-protein ligase | Apoptosis | Index Medicus
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5. Full Text Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations
by Bahrami, Ehsan, MSc and Witzel, Maximilian, MD and Racek, Tomas, PhD and Puchałka, Jacek, PhD and Hollizeck, Sebastian, MSc and Greif-Kohistani, Naschla, MD and Kotlarz, Daniel, MD, PhD and Horny, Hans-Peter, MD and Feederle, Regina, PhD and Schmidt, Heinrich, MD and Sherkat, Roya, MD and Steinemann, Doris, PhD and Göhring, Gudrun, MD and Schlegelbeger, Brigitte, MD and Albert, Michael H., MD and Al-Herz, Waleed, MD and Klein, Christoph, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 140, Issue 4, pp. 1112 - 1119
Allergy and Immunology | stem cells | hematopoiesis | rare disease | Immunodeficiency | transplantation | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Genome-Wide Association Study | Humans | Cells, Cultured | Hematopoietic Stem Cell Transplantation | Genotype | DNA Damage - immunology | DNA Repair - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | DNA-Binding Proteins - metabolism | Transcription Factors - metabolism | Ubiquitination | Hematopoiesis | Pedigree | Bone Marrow Diseases - immunology | Developmental Disabilities - immunology | Consanguinity | p38 Mitogen-Activated Protein Kinases - metabolism | Histones - metabolism | Immunologic Deficiency Syndromes - immunology | Sequence Deletion - genetics | Monoclonal antibodies | Codon | Analysis | Genomics | Transplantation | B cells | Nucleotide sequencing | Hematopoietic stem cells | Risk factors | DNA sequencing | Cataracts | Reactive oxygen species | Phosphorylation | p38 Protein | Transplants & implants | Transcription | Nonsense mutation | DNA damage | Genotoxicity | Stem cell transplantation | Genomes | Cognition | Kinases | Homozygosity | Phosphatase | Immunity | Blood | Gene sequencing | Proteins | Penicillin | Bone marrow | Deoxyribonucleic acid--DNA | Siblings | Stresses | Cell survival | U.V. radiation | Anemia | Stop codon | Patients | Survival | Stress | Hemopoiesis | Studies | Ultraviolet radiation | Lymphocytes B | Biopsy | Stem cells | Epigenetics | Mutation | Aberration | Leukocytes (granulocytic) | Gene mapping | Apoptosis | Index Medicus | Abridged Index Medicus
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6. Full Text LAMTOR2 Is Dispensable for T Cell Receptor-Mediated Signaling of Thymocytes but Controls Medullary Thymic Epithelial Cells
by Wendeler, Lina and Huber, Lukas A and Klein, Christoph and Kotlarz, Daniel
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 1122 - 1122
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7. Full Text Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
by Kotlarz, Daniel and Marquardt, Benjamin and Barøy, Tuva and Lee, Way S and Konnikova, Liza and Hollizeck, Sebastian and Magg, Thomas and Lehle, Anna S and Walz, Christoph and Borggraefe, Ingo and Hauck, Fabian and Bufler, Philip and Conca, Raffaele and Wall, Sarah M and Schumacher, Eva M and Misceo, Doriana and Frengen, Eirik and Bentsen, Beint S and Uhlig, Holm H and Hopfner, Karl-Peter and Muise, Aleixo M and Snapper, Scott B and Strømme, Petter and Klein, Christoph
Nature genetics, ISSN 1061-4036, 03/2018, Volume 50, Issue 3, pp. 344 - 348
Severity of Illness Index | DNA Mutational Analysis | Pedigree | Brain Diseases - complications | Humans | Inflammatory Bowel Diseases - pathology | Brain Diseases - genetics | Inflammatory Bowel Diseases - genetics | Female | Male | Transforming Growth Factor beta1 - genetics | Inflammatory Bowel Diseases - complications | Brain | Inflammatory bowel diseases | Nuclear magnetic resonance--NMR | Peptides | Epilepsy | Central nervous system | Homeostasis | Genomes | Leukoencephalopathy | Immunity | Proteins | Atrophy | Embryogenesis | Neurodegeneration | Intestine | Encephalopathy | Bioinformatics | Growth factors | Age | Cytomegalovirus | Transforming growth factor-b1 | Bioavailability | Patients | Crohns disease | Embryonic growth stage | Inflammatory bowel disease | Ostomy | Mutation | Alzheimers disease | Index Medicus
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8. Full Text The phenotype of human STK4 deficiency
by Abdollahpour, Hengameh and Appaswamy, Giridharan and Kotlarz, Daniel and Diestelhorst, Jana and Beier, Rita and Schäffer, Alejandro A and Gertz, E. Michael and Schambach, Axel and Kreipe, Hans H and Pfeifer, Dietmar and Engelhardt, Karin R and Rezaei, Nima and Grimbacher, Bodo and Lohrmann, Sabine and Sherkat, Roya and Klein, Christoph
Blood, ISSN 0006-4971, 04/2012, Volume 119, Issue 15, pp. 3450 - 3457
Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Biological and medical sciences | Medical sciences | Protein-Serine-Threonine Kinases - deficiency | Immunologic Deficiency Syndromes - complications | Humans | Protein-Serine-Threonine Kinases - genetics | Child, Preschool | Male | Case-Control Studies | Neutropenia - etiology | Phenotype | DNA Mutational Analysis | Pedigree | Base Sequence | Immunologic Deficiency Syndromes - genetics | Female | Immunologic Deficiency Syndromes - blood | Consanguinity | Neutropenia - blood | Immunologic Deficiency Syndromes - immunology | Iran - epidemiology | Neutropenia - genetics | Neutropenia - immunology | Index Medicus | Abridged Index Medicus | Immunobiology | Phagocytes, Granulocytes, and Myelopoiesis
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9. Full Text Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma
by Somekh, Ido and Marquardt, Benjamin and Liu, Yanshan and Rohlfs, Meino and Hollizeck, Sebastian and Karakukcu, Musa and Unal, Ekrem and Yilmaz, Ebru and Patiroglu, Turkan and Cansever, Murat and Frizinsky, Shirly and Vishnvenska-Dai, Vicktoria and Rechavi, Erez and Stauber, Tali and Simon, Amos J and Lev, Atar and Klein, Christoph and Kotlarz, Daniel and Somech, Raz
Journal of clinical immunology, ISSN 0271-9142, 8/2018, Volume 38, Issue 6, pp. 699 - 710
Autoimmunity | T cell development | Medical Microbiology | Biomedicine | Immunology | EBV | Infectious Diseases | Internal Medicine | lymphoproliferation | PID | RASGRP1 | Life Sciences & Biomedicine | Science & Technology | Immunodeficiency | Lymphomas | Genetic aspects | Transplantation | T cells | Hematopoietic stem cells | Stem cell transplantation | Extracellular signal-regulated kinase | Immunoblotting | Guanosine triphosphatases | T cell receptors | Ras protein | Protein deficiency | Patients | Lymphoma | Genetic screening | Hemopoiesis | CD4 antigen | T-cell receptor | Lymphocytes B | Lymphopenia | Lymphocytes | Mutation | Autoimmune diseases | B-cell lymphoma
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10. Full Text Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency
by Illig, David and Navratil, Marta and Kelečić, Jadranka and Conca, Raffaele and Hojsak, Iva and Jadrešin, Oleg and Ćorić, Marijana and Vuković, Jurica and Rohlfs, Meino and Hollizeck, Sebastian and Bohne, Jens and Klein, Christoph and Kotlarz, Daniel
Journal of clinical immunology, ISSN 0271-9142, 2/2019, Volume 39, Issue 2, pp. 207 - 215
Medical Microbiology | Biomedicine | Immunology | Infectious Diseases | Internal Medicine | immunodeficiency | splicing | IL-21R | SCID | IL-2R | Life Sciences & Biomedicine | Science & Technology | Cryptosporidiosis - genetics | Alternative Splicing | Cholangitis - genetics | Humans | Interleukin-21 Receptor alpha Subunit - immunology | Child, Preschool | Male | Cholangitis - immunology | Severe Combined Immunodeficiency - immunology | Interleukin-21 Receptor alpha Subunit - deficiency | Cryptosporidiosis - immunology | Respiratory Tract Infections - genetics | Severe Combined Immunodeficiency - genetics | B-Lymphocytes - immunology | Diarrhea - genetics | Diarrhea - immunology | Respiratory Tract Infections - immunology | Interleukin-21 Receptor alpha Subunit - genetics | Croatia | Chain stores | Killer cells | Interleukins | Analysis | Immunodeficiency | Alternative splicing | Interleukin 2 receptors | Flow cytometry | Phosphorylation | Severe combined immunodeficiency | Cytokines | Cholangitis | Stat3 protein | Diarrhea | Stat5 protein | Gene deletion | Interleukin 15 | Ribonucleic acid--RNA | Defects | Cryptosporidiosis | Interleukin 7 | Interleukin 4 | Clonal deletion | Lymphocytes B | Interleukin 2 | Isoforms | Stat6 protein | Interleukin 21 | Natural killer cells | Index Medicus
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