Publications by authors named "Daniel Kotlarz"

45Publications

An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.

J Clin Immunol 2020 Oct 24;40(7):1010-1019. Epub 2020 Jul 24.

Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.

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http://dx.doi.org/10.1007/s10875-020-00829-zDOI Listing
October 2020

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.

Gastroenterology 2020 Jun 19;158(8):2208-2220. Epub 2020 Feb 19.

SickKids Inflammatory Bowel Disease Center, The Hospital for Sick Children, Toronto, Ontario, Canada; Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pediatrics, Institute of Medical Science and Biochemistry, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2020.02.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283012PMC
June 2020

Dysregulation of Cell Death in Human Chronic Inflammation.

Cold Spring Harb Perspect Biol 2020 Jul 1;12(7). Epub 2020 Jul 1.

Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, 80337 Munich, Bavaria, Germany.

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http://dx.doi.org/10.1101/cshperspect.a037036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328459PMC
July 2020

Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency.

Gastroenterology 2020 03 16;158(4):1000-1015. Epub 2019 Nov 16.

SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, Toronto, Ontario, Canada; Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pediatrics, Institute of Medical Science and Biochemistry, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2019.11.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062591PMC
March 2020

Low-Dose Interleukin-2 Ameliorates Colitis in a Preclinical Humanized Mouse Model.

Cell Mol Gastroenterol Hepatol 2019 9;8(2):193-195. Epub 2019 May 9.

Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts; Division of Gastroenterology, Brigham and Women's Hospital, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jcmgh.2019.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661391PMC
July 2020

LAMTOR2 (p14) Controls B Cell Differentiation by Orchestrating Endosomal BCR Trafficking.

Front Immunol 2019 18;10:497. Epub 2019 Mar 18.

Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

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http://dx.doi.org/10.3389/fimmu.2019.00497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431647PMC
September 2020

Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency.

J Clin Immunol 2019 02 21;39(2):207-215. Epub 2019 Mar 21.

Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, LMU Munich, Lindwurmstrasse 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1007/s10875-019-00606-7DOI Listing
February 2019

Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.

J Clin Immunol 2018 Aug;38(6):711

Pediatric Department A and the Immunology Service, JeffreyModell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s10875-018-0541-8DOI Listing
August 2018

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.

J Clin Immunol 2018 08 20;38(6):699-710. Epub 2018 Jul 20.

Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s10875-018-0533-8DOI Listing
August 2018

Adipose-derived Stromal Cells: The Good Side of Fat?

Cell Mol Gastroenterol Hepatol 2018 15;6(1):113-114. Epub 2018 Mar 15.

Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jcmgh.2018.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007804PMC
March 2018

Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD.

Inflamm Bowel Dis 2017 11;23(11):1950-1961

1Division of Pediatric Gastroenterology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat-Gan, Israel; 2Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 3Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, Massachusetts; 4VEO-IBD Consortium; 5Department of Pediatrics and Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts; 6Harvard Medical School, Boston, Massachusetts; 7Great Ormond Street Hospital London, London, England; 8Translational Gastroenterology Unit, University of Oxford, Oxford, England; 9Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Florida, Gainesville, Florida; 10Division of Gastroenterology and Nutrition, The Children's Hospital at Montefiore, Bronx, New York; 11Pediatric Gastroenterology Unit, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel; 12Department of Pediatrics, Kurume University School of Medicine, Kurume, Japan; 13Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany; 14Department of Gastroenterology, Children's National Medical Center, Washington, DC; 15Division of Pediatric Hematology and Oncology, University of Michigan, Ann Arbor, Michigan; 16Hospital das Clınicas, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil; 17Division of Gastroenterology, McMaster Children's Hospital, West Hamilton, Ontario, Canada; 18Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany; 19Division of Pathology, Boston Children's Hospital, Boston, Massachusetts; 20Department of Pediatrics, University of Oxford, Oxford, England; 21Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada; 22Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada; 23Department of Biochemistry, Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada; and 24Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1097/MIB.0000000000001270DOI Listing
November 2017

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

Inflamm Bowel Dis 2017 12;23(12):2109-2120

1Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany; 2Center for Chronic Immunodeficiency (CCI), DZIF Satellite Center, Medical Center, Faculty of Medicine, Germany; 3Paediatric Gastroenterology, Klinikum Nürnberg, Nuremberg, Germany; 4Laboratory of Applied Molecular Biology and Immunology, University of Abou-Bekr Belkaïd, Tlemcen, Algeria; 5Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; 6Clinic of Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey; 7Department of Gastroenterology and Clinical Nutrition, Birmingham Children's Hospital, Birmingham, United Kingdom; 8Department of Paediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 9Department of Immunology, Royal Free Hospital, London, United Kingdom; 10Primary Immunodeficiencies Unit, Hospital Dona Estefania, Pediatric University Hospital, and CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal; 11Department of Pediatric Gasteroentrology and Hepatology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 12Helios Kliniken, Childrens Hospital, Krefeld, Germany; 13Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt; 14Paediatric Gastroenterology/Hepatology, University of Freiburg, Freiburg, Germany; 15Institute of Medical Microbiology and Hygiene, University of Freiburg, Freiburg, Germany; 16Department of Pediatrics, University Medical Center Dresden, Technische Universität Dresden, Dresden, Germany; 17Department of Medicine II, University Hospital and Medical Faculty, University Freiburg, Freiburg, Germany; 18Department of Paediatrics, Centre for Diagnosis and Treatment of Primary Immunodeficiencies, Jessenius Faculty of Medicine, Commenius University in Bratislava, Martin, Slovakia; 19Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey; 20Department of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 21Pediatric Immunology Division, Uludag University Medical Faculty, Department of Pediatrics, Bursa, Turkey; 22Dr. von Hauner Children's Hospital, Department of Pediatrics, Ludwig-Maximilians-Universität Munich, Munich, Germany; 23Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; 24Center for Pediatrics, Department of Pediatric Hematology and Oncology, University Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; 25Department of Paediatric Immunology and Infectious Diseases, Our Lady's Children's Hospital, Dublin, Ireland; 26Department of Immunology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 27Department of Paediatric Gastroenterology, St. George's Healthcare NHS Trust and University of London, London, United Kingdom; 28Department of Gastroenterology and Clinical Nutrition, Marmara University Medical Faculty, Istanbul, Turkey; 29Service of Clinical Laboratory, Division of Immunology, San Pedro De Alcántara Hospital, Cáceres, Spain; 30Bone Marrow Failure Group, Division of Pediatric Hematology and Oncology, University of Freiburg, Germany; 31Children's Hospital, University of Bonn, Germany; 32University College London Institute of Immunity and Transplantation, Royal Free Campus, London, United Kingdom; 33Department of Paediatrics, St. George's Hospital, University of London, London, United Kingdom; 34Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium; 35Pediatric Pneumology and Immunology, Department of Immunology, Charité University Medicine Labor Berlin Charité Vivantes GmbH, Berlin, Germany; 36Department of Medicine I, University Medical Center Dresden, Technische Universität Dresden, Dresden, Germany; 37Center for Regenerative Therapies, Technische Universität Dresden, Dresden, Germany; and 38Institute of Laboratory Medicine, Brandenburg Hospital, Brandenburg Medical School, Brandenburg/Havel, Germany.

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http://dx.doi.org/10.1097/MIB.0000000000001235DOI Listing
December 2017

Differential diagnosis in ulcerative colitis in an adolescent: Chronic granulomatous disease needs extra attention.

World J Gastrointest Pathophysiol 2017 May;8(2):87-92

Daniel Kotlarz, Jacek Puchalka, Cristoph Klein, Department of Pediatrics Dr. Von Hauner Children's Hospital, Ludwig-Maximilians-University, 80539 Munich, Germany.

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http://dx.doi.org/10.4291/wjgp.v8.i2.87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437506PMC
May 2017

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Gastroenterology 2016 05 4;150(5):1196-1207. Epub 2016 Feb 4.

SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00165085160012
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http://dx.doi.org/10.1053/j.gastro.2016.01.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4842103PMC
May 2016

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

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http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency.

Curr Opin Pediatr 2014 Dec;26(6):704-12

aDepartment of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich bInstitute of Immunology, Hannover Medical School, Hannover, Germany cLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://pdfs.journals.lww.com/co-pediatrics/2014/12000/Human_
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MOP.0000000000000160DOI Listing
December 2014

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Gastroenterology 2014 Apr 11;146(4):1028-39. Epub 2014 Jan 11.

SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2014.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4002656PMC
April 2014

IL-10 and IL-10 receptor defects in humans.

Ann N Y Acad Sci 2011 Dec;1246:102-7

Institute of Medical Microbiology and Hygiene, University Hospital Freiburg, Germany.

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http://doi.wiley.com/10.1111/j.1749-6632.2011.06339.x
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http://dx.doi.org/10.1111/j.1749-6632.2011.06339.xDOI Listing
December 2011

Arrhythmia susceptibility in mice after therapy with beta-catenin-transduced hematopoietic progenitor cells after myocardial ischemia/reperfusion.

Cardiology 2009 15;114(3):199-207. Epub 2009 Jul 15.

Department of Cardiovascular Medicine, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1159/000228644DOI Listing
December 2009