Publications by authors named "Min Ae Lee-Kirsch"

54Publications

Janus kinase inhibition in complement component 1 deficiency.

J Allergy Clin Immunol 2020 Apr 20. Epub 2020 Apr 20.

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2020.04.002DOI Listing
April 2020

Aicardi-Goutières syndrome due to a paternal mosaic mutation.

Neurol Genet 2020 Feb 19;6(1):e384. Epub 2019 Dec 19.

Department of Pediatrics (V.T., C.W., N.L., M.A.L.-K.), Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden; Department of Neuropediatrics (M.D.-N., I.K.-M.), University of Tübingen, Germany; Child Neurology and Psychiatry Unit (M.S.), Paediatric Department, Bolzano Regional Hospital; Child Haematology and Oncology Unit (P.K.), Paediatric Department, Bolzano Regional Hospital, Italy; Institute of Medical Genetics and Applied Genomics (F.H.), University of Tübingen; and Center for Neurology and Hertie-Institute for Clinical Brain Research (J.R., R.S.), University of Tübingen and German Center of Neurodegenerative Diseases, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6936312PMC
February 2020

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

J Clin Invest 2020 Apr;130(4):1669-1682

Translational Autoinflammatory Diseases Section (TADS), NIAID/NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1172/JCI129301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7108905PMC
April 2020

Therapeutic Approaches to Type I Interferonopathies.

Curr Rheumatol Rep 2018 04 20;20(6):32. Epub 2018 Apr 20.

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://link.springer.com/10.1007/s11926-018-0743-3
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http://dx.doi.org/10.1007/s11926-018-0743-3DOI Listing
April 2018

SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility.

J Invest Dermatol 2018 06 1;138(6):1428-1431. Epub 2018 Feb 1.

Max-Delbrück-Centrum (MDC) for Molecular Medicine, Berlin, Germany; Pediatric Allergology, Experimental and Clinical Research Center, Charité, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2018.01.015DOI Listing
June 2018

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Eur J Paediatr Neurol 2018 Jan 22;22(1):186-189. Epub 2017 Nov 22.

Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307 Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.11.003DOI Listing
January 2018

Type I interferon-mediated autoinflammation and autoimmunity.

Curr Opin Immunol 2017 Dec 10;49:96-102. Epub 2017 Nov 10.

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09527915173011
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http://dx.doi.org/10.1016/j.coi.2017.09.003DOI Listing
December 2017

Single Cell Gel Electrophoresis for the Detection of Genomic Ribonucleotides.

Methods Mol Biol 2018 ;1672:311-318

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/978-1-4939-7306-4_21DOI Listing
June 2018

Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs.

J Immunol 2017 10 23;199(7):2261-2269. Epub 2017 Aug 23.

Institute for Immunology, Medical Faculty Carl Gustav Carus, Technical University of Dresden, 01307 Dresden, Germany;

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http://dx.doi.org/10.4049/jimmunol.1700714DOI Listing
October 2017

The Type I Interferonopathies.

Annu Rev Med 2017 01 2;68:297-315. Epub 2016 Nov 2.

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; email:

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http://dx.doi.org/10.1146/annurev-med-050715-104506DOI Listing
January 2017

Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al.

Ann Rheum Dis 2016 12 3;75(12):e76. Epub 2016 Nov 3.

Molecular Pediatrics, Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1136/annrheumdis-2016-210565DOI Listing
December 2016

Nucleic acid-mediated autoinflammation and autoimmunity-type I interferonopathies.

J Mol Med (Berl) 2016 10;94(10):1081-1084

Institute for Immunology, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/s00109-016-1467-3DOI Listing
October 2016

Familial chilblain lupus due to a gain-of-function mutation in STING.

Ann Rheum Dis 2017 Feb 26;76(2):468-472. Epub 2016 Aug 26.

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1136/annrheumdis-2016-209841DOI Listing
February 2017

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.

J Cyst Fibros 2016 11 22;15(6):752-758. Epub 2016 Jul 22.

Institute of Clinical Chemistry and Laboratory Medicine, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2016.07.002DOI Listing
November 2016

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Brain Dev 2016 Sep 26;38(8):777-80. Epub 2016 Feb 26.

Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.

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http://dx.doi.org/10.1016/j.braindev.2016.02.007DOI Listing
September 2016

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

Authors:
Lavinia Paternoster Marie Standl Johannes Waage Hansjörg Baurecht Melanie Hotze David P Strachan John A Curtin Klaus Bønnelykke Chao Tian Atsushi Takahashi Jorge Esparza-Gordillo Alexessander Couto Alves Jacob P Thyssen Herman T den Dekker Manuel A Ferreira Elisabeth Altmaier Patrick Ma Sleiman Feng Li Xiao Juan R Gonzalez Ingo Marenholz Birgit Kalb Maria Pino Yanes Cheng-Jian Xu Lisbeth Carstensen Maria M Groen-Blokhuis Cristina Venturini Craig E Pennell Sheila J Barton Albert M Levin Ivan Curjuric Mariona Bustamante Eskil Kreiner-Møller Gabrielle A Lockett Jonas Bacelis Supinda Bunyavanich Rachel A Myers Anja Matanovic Ashish Kumar Joyce Y Tung Tomomitsu Hirota Michiaki Kubo Wendy L McArdle A J Henderson John P Kemp Jie Zheng George Davey Smith Franz Rüschendorf Anja Bauerfeind Min Ae Lee-Kirsch Andreas Arnold Georg Homuth Carsten O Schmidt Elisabeth Mangold Sven Cichon Thomas Keil Elke Rodríguez Annette Peters Andre Franke Wolfgang Lieb Natalija Novak Regina Fölster-Holst Momoko Horikoshi Juha Pekkanen Sylvain Sebert Lise L Husemoen Niels Grarup Johan C de Jongste Fernando Rivadeneira Albert Hofman Vincent Wv Jaddoe Suzanne Gma Pasmans Niels J Elbert André G Uitterlinden Guy B Marks Philip J Thompson Melanie C Matheson Colin F Robertson Janina S Ried Jin Li Xian Bo Zuo Xiao Dong Zheng Xian Yong Yin Liang Dan Sun Maeve A McAleer Grainne M O'Regan Caoimhe Mr Fahy Linda E Campbell Milan Macek Michael Kurek Donglei Hu Celeste Eng Dirkje S Postma Bjarke Feenstra Frank Geller Jouke Jan Hottenga Christel M Middeldorp Pirro Hysi Veronique Bataille Tim Spector Carla Mt Tiesler Elisabeth Thiering Badri Pahukasahasram James J Yang Medea Imboden Scott Huntsman Natàlia Vilor-Tejedor Caroline L Relton Ronny Myhre Wenche Nystad Adnan Custovic Scott T Weiss Deborah A Meyers Cilla Söderhäll Erik Melén Carole Ober Benjamin A Raby Angela Simpson Bo Jacobsson John W Holloway Hans Bisgaard Jordi Sunyer Nicole M Probst Hensch L Keoki Williams Keith M Godfrey Carol A Wang Dorret I Boomsma Mads Melbye Gerard H Koppelman Deborah Jarvis Wh Irwin McLean Alan D Irvine Xue Jun Zhang Hakon Hakonarson Christian Gieger Esteban G Burchard Nicholas G Martin Liesbeth Duijts Allan Linneberg Marjo-Riitta Jarvelin Markus M Noethen Susanne Lau Norbert Hübner Young-Ae Lee Mayumi Tamari David A Hinds Daniel Glass Sara J Brown Joachim Heinrich David M Evans Stephan Weidinger

Nat Genet 2015 Dec 19;47(12):1449-1456. Epub 2015 Oct 19.

Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://dx.doi.org/10.1038/ng.3424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753676PMC
December 2015

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.

Pediatr Rheumatol Online J 2015 Sep 7;13(1):37. Epub 2015 Sep 7.

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1186/s12969-015-0035-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562156PMC
September 2015

Type I interferonopathies--an expanding disease spectrum of immunodysregulation.

Semin Immunopathol 2015 Jul 22;37(4):349-57. Epub 2015 May 22.

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany,

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http://dx.doi.org/10.1007/s00281-015-0500-xDOI Listing
July 2015

Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.

PLoS Genet 2015 Mar 10;11(3):e1005076. Epub 2015 Mar 10.

Max-Delbrück-Centrum (MDC) for Molecular Medicine, Berlin, Germany; Clinic for Pediatric Allergy, Experimental and Clinical Research Center, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1005076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355615PMC
March 2015

Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL.

Neurol Neuroimmunol Neuroinflamm 2015 Feb 23;2(1):e55. Epub 2014 Dec 23.

Institute of Clinical Neuroimmunology (E.S., R.H., T.K.) and Institute of Clinical Radiology (B.E.-W.), Ludwig-Maximilians University, Munich, Germany; Department of Neuroimmunology (E.S.), Center of Brain Research, Vienna, Austria; Institute of Laboratory Medicine and Human Genetics (P.L.), Singen, Germany; Department of Ophthalmology (W.W.), Outpatient Clinic Neuhann, Munich, Germany; Department of Nephrology (J.F.M.), Clinical Centre Schwabing, Munich, Germany; Department of Pediatrics (M.A.L.-K.), Technische Universität Dresden, Germany; and Munich Cluster for Systems Neurology (SyNergy) (R.H.), Munich, Germany.

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http://dx.doi.org/10.1212/NXI.0000000000000055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277301PMC
February 2015

Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).

JAMA Dermatol 2015 Apr;151(4):426-31

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1001/jamadermatol.2014.3438DOI Listing
April 2015

Deregulated type I IFN response in TREX1-associated familial chilblain lupus.

J Invest Dermatol 2014 May 22;134(5):1456-1459. Epub 2013 Nov 22.

Department of Dermatology, University Hospital, Technical University Dresden, Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.496DOI Listing
May 2014

Systemic involvement in TREX1-associated familial chilblain lupus.

J Am Acad Dermatol 2013 Oct;69(4):e179-81

Department of Dermatology, University Hospital, Technical University Dresden, Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2013.04.020DOI Listing
October 2013

Single-stranded nucleic acids promote SAMHD1 complex formation.

J Mol Med (Berl) 2013 Jun 31;91(6):759-70. Epub 2013 Jan 31.

Children's Hospital, Technical University Dresden, 01307 Dresden, Germany.

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http://dx.doi.org/10.1007/s00109-013-0995-3DOI Listing
June 2013

Innate immune processes in lupus erythematosus.

Clin Immunol 2013 Jun 12;147(3):216-22. Epub 2012 Dec 12.

Division of Rheumatology, Department of Medicine III, University Clinical Center Carl Gustav Carus, Technical University Dresden, Dresden, Germany.

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http://dx.doi.org/10.1016/j.clim.2012.11.012DOI Listing
June 2013

Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes.

Nat Immunol 2013 Jan 18;14(1):61-71. Epub 2012 Nov 18.

Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1038/ni.2475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522772PMC
January 2013

Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.

J Child Neurol 2011 Nov 13;26(11):1425-8. Epub 2011 Jun 13.

Epilepsy Center, University Hospital Freiburg, Germany.

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http://dx.doi.org/10.1177/0883073811408310DOI Listing
November 2011

Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.

J Invest Dermatol 2011 Aug 14;131(8):1644-9. Epub 2011 Apr 14.

Pediatric Pneumology and Immunology and Experimental and Clinical Research Center, Charité, Berlin, Germany.

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http://dx.doi.org/10.1038/jid.2011.90DOI Listing
August 2011

Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab.

Arthritis Care Res (Hoboken) 2011 Mar;63(3):454-9

University Medical Center Carl-Gustav-Carus, Technical University, Dresden, Germany.

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http://doi.wiley.com/10.1002/acr.20361
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http://dx.doi.org/10.1002/acr.20361DOI Listing
March 2011

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

Nat Immunol 2010 Nov 26;11(11):1005-13. Epub 2010 Sep 26.

Immune Disease Institute and Program in Cellular and Molecular Medicine, Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/articles/ni.1941
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http://dx.doi.org/10.1038/ni.1941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958248PMC
November 2010

Nucleic acid metabolism and systemic autoimmunity revisited.

Arthritis Rheum 2010 May;62(5):1208-12

Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/art.27372DOI Listing
May 2010

Chilblain lupus erythematosus--a review of literature.

Clin Rheumatol 2008 Aug 10;27(8):949-54. Epub 2008 Jun 10.

Department of Pediatric Rheumatology and Immunology, University Children's Hospital Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/s10067-008-0942-9DOI Listing
August 2008

Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes.

Ann N Y Acad Sci 2007 Sep;1110:159-65

Klinik für Kinder- und Jugendmedizin, Technische Universität Dresden, Fetscherstr. 74, 01307 Dresden, Germany.

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http://dx.doi.org/10.1196/annals.1423.018DOI Listing
September 2007

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.

J Mol Med (Berl) 2007 May 18;85(5):531-7. Epub 2007 Apr 18.

Klinik für Kinder-und Jugendmedizin, Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/s00109-007-0199-9DOI Listing
May 2007