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1

Type I interferon-mediated autoinflammation and autoimmunity

Kretschmer, Stefanie, Lee-Kirsch, Min Ae

Journal:

Current Opinion in Immunology

Année:

2017

Langue:

english

Fichier:

PDF, 529 KB

english, 2017

2

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY)

Dalia Toaima, Andrea Näke, Jutta Wendenburg, Kirsten Praedicow, Julia Rohayem, Kerstin Engel, Angela Galler, Manfred Gahr, Min Ae Lee-Kirsch

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 74 KB

english, 2005

3

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

Fabian Hauck, Min Ae Lee-kirsch, Daniela Aust, Joachim Roesler, Frank Pessler

Journal:

Arthritis Care & Research

Année:

2011

Langue:

english

Fichier:

PDF, 295 KB

english, 2011

4

Nucleic acid metabolism and systemic autoimmunity revisited

Min Ae Lee-Kirsch

Journal:

Arthritis & Rheumatism

Année:

2010

Langue:

english

Fichier:

PDF, 104 KB

english, 2010

5

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

Claus E. Ott, Gundula Leschik, Fabienne Trotier, Louise Brueton, Han G. Brunner, Wim Brussel, Encarna Guillen-Navarro, Claudia Haase, Juergen Kohlhase, Dieter Kotzot, Andrew Lane, Min Ae Lee-Kirsch, S

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 115 KB

english, 2010

6

A mutation inTREX1that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

Min Ae Lee-Kirsch, Dipanjan Chowdhury, Scott Harvey, Maoliang Gong, Lydia Senenko, Kerstin Engel, Christiane Pfeiffer, Thomas Hollis, Manfred Gahr, Fred W. Perrino, Judy Lieberman, Norbert Hubner

Journal:

Journal of Molecular Medicine

Année:

2007

Langue:

english

Fichier:

PDF, 206 KB

english, 2007

7

Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation

Catharina Schuetz, Manfred Hoenig, Ansgar Schulz, Min Ae Lee-Kirsch, Joachim Roesler, Wilhelm Friedrich, Horst von Bernuth

Journal:

European Journal of Pediatrics

Année:

2007

Langue:

english

Fichier:

PDF, 160 KB

english, 2007

8

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus

Lee-Kirsch, Min Ae, Gong, Maolian, Chowdhury, Dipanjan, Senenko, Lydia, Engel, Kerstin, Lee, Young-Ae, de Silva, Udesh, Bailey, Suzanna L, Witte, Torsten, Vyse, Timothy J

Journal:

Nature Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 263 KB

english, 2007

9

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

Yan, Nan, Regalado-Magdos, Ashton D, Stiggelbout, Bart, Lee-Kirsch, Min Ae, Lieberman, Judy

Journal:

Nature Immunology

Année:

2010

Langue:

english

Fichier:

PDF, 891 KB

english, 2010

10

Genetic Dissection of Autoimmune Polyendocrine Syndrome Type 2 : Common Origin of a Spectrum of Phenotypes

ANNALISA BALLARINI, MIN AE LEE-KIRSCH

Journal:

Annals of the New York Academy of Sciences

Année:

2007

Langue:

english

Fichier:

PDF, 67 KB

english, 2007

11

Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p

Min Ae Lee-Kirsch, Maolian Gong, Herbert Schulz, Franz Rüschendorf, Annette Stein, Christiane Pfeiffer, Annalisa Ballarini, Manfred Gahr, Norbert Hubner, Maja Linné

Journal:

The American Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 427 KB

english, 2006

12

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

Hasan, Maroof, Koch, James, Rakheja, Dinesh, Pattnaik, Asit K, Brugarolas, James, Dozmorov, Igor, Levine, Beth, Wakeland, Edward K, Lee-Kirsch, Min Ae, Yan, Nan

Journal:

Nature Immunology

Année:

2012

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2012

13

Innate immune processes in lupus erythematosus

Aringer, Martin, Günther, Claudia, Lee-Kirsch, Min Ae

Journal:

Clinical Immunology

Année:

2013

Langue:

english

Fichier:

PDF, 363 KB

english, 2013

14

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis

Esparza-Gordillo, Jorge, Schaarschmidt, Heidi, Liang, Liming, Cookson, William, Bauerfeind, Anja, Lee-Kirsch, Min-Ae, Nemat, Katja, Henderson, John, Paternoster, Lavinia, Harper, John I., Mangold, Eli

Journal:

Journal of Allergy and Clinical Immunology

Année:

2013

Langue:

english

Fichier:

PDF, 693 KB

english, 2013

15

Systemic involvement in TREX1-associated familial chilblain lupus

Günther, Claudia, Hillebrand, Matthias, Brunk, Julia, Lee-Kirsch, Min Ae

Journal:

Journal of the American Academy of Dermatology

Année:

2013

Langue:

english

Fichier:

PDF, 838 KB

english, 2013

16

Deregulated Type I IFN Response in TREX1-Associated Familial Chilblain Lupus

Peschke, Katrin, Friebe, Franziska, Zimmermann, Nick, Wahlicht, Tom, Schumann, Tina, Achleitner, Martin, Berndt, Nicole, Luksch, Hella, Behrendt, Rayk, Lee-Kirsch, Min Ae, Roers, Axel, Günther, Claudi

Journal:

The Journal of Investigative Dermatology

Année:

2014

Langue:

english

Fichier:

PDF, 6.10 MB

english, 2014

17

Type I interferonopathies—an expanding disease spectrum of immunodysregulation

Lee-Kirsch, Min Ae, Wolf, Christine, Kretschmer, Stefanie, Roers, Axel

Journal:

Seminars in Immunopathology

Année:

2015

Langue:

english

Fichier:

PDF, 375 KB

english, 2015

18

Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance

Esparza-Gordillo, Jorge, Matanovic, Anja, Marenholz, Ingo, Bauerfeind, Anja, Rohde, Klaus, Nemat, Katja, Lee-Kirsch, Min-Ae, Nordenskjöld, Magnus, Winge, Marten C. G., Keil, Thomas, Krüger, Renate, La

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 398 KB

english, 2015

19

Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema

Marenholz, Ingo, Rivera, Vladimir A Gimenez, Esparza-Gordillo, Jorge, Bauerfeind, Anja, Lee-Kirsch, Min-Ae, Ciechanowicz, Andrzej, Kurek, Michael, Piskackova, Tereza, Macek, Milan, Lee, Young-Ae

Journal:

The Journal of Investigative Dermatology

Année:

2011

Langue:

english

Fichier:

PDF, 422 KB

english, 2011

20

Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3′ Repair Exonuclease 1 ( TREX1 )

Günther, Claudia, Berndt, Nicole, Wolf, Christine, Lee-Kirsch, Min Ae

Journal:

JAMA Dermatology

Année:

2015

Langue:

english

Fichier:

PDF, 424 KB

english, 2015

21

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

Sell, Katharina, Storch, Katja, Hahn, Gabriele, Lee-Kirsch, Min Ae, Ramantani, Georgia, Jackson, Sandra, Neilson, Derek, von der Hagen, Maja, Hehr, Ute, Smitka, Martin

Journal:

Brain and Development

Année:

2016

Langue:

english

Fichier:

PDF, 525 KB

english, 2016

22

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

Girschick, Hermann, Wolf, Christine, Morbach, Henner, Hertzberg, Christoph, Lee-Kirsch, Min Ae

Journal:

Pediatric Rheumatology

Année:

2015

Langue:

english

Fichier:

PDF, 832 KB

english, 2015

23

Nucleic acid-mediated autoinflammation and autoimmunity—type I interferonopathies

Lee-Kirsch, Min Ae, Günther, Claudia, Roers, Axel

Journal:

Journal of Molecular Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 458 KB

english, 2016

24

The Type I Interferonopathies

Lee-Kirsch, Min Ae

Journal:

Annual Review of Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 11.76 MB

english, 2017

25

Response to: ‘JAK inhibition in STING-associated interferonopathy’ by Crow et al

Tüngler, Victoria, König, Nadja, Günther, Claudia, Engel, Kerstin, Fiehn, Christoph, Smitka, Martin, von der Hagen, Maja, Berner, Reinhard, Lee-Kirsch, Min Ae

Journal:

Annals of the Rheumatic Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 608 KB

english, 2016

26

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

Schmelzer, Lisa, Smitka, Martin, Wolf, Christine, Lucas, Nadja, Tüngler, Victoria, Hahn, Gabriele, Tzschach, Andreas, Di Donato, Nataliya, Lee-Kirsch, Min Ae, von der Hagen, Maja

Journal:

European Journal of Paediatric Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 598 KB

english, 2017

27

SMARCAD1 haploinsufficiency underlies Huriez Syndrome and associated skin cancer susceptibility

Günther, Claudia, Lee-Kirsch, Min Ae, Eckhard, Jamina, Matanovic, Anja, Kerscher, Tamara, Rüschendorf, Franz, Klein, Benjamin, Berndt, Nicole, Zimmermann, Nick, Flachmeier, Christina, Thuß, Theresa, L

Journal:

The Journal of Investigative Dermatology

Année:

2018

Langue:

english

Fichier:

PDF, 2.39 MB

english, 2018

28

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

Skrabl-Baumgartner, Andrea, Plecko, Barbara, Schmidt, Wolfgang M., König, Nadja, Hershfield, Michael, Gruber-Sedlmayr, Ursula, Lee-Kirsch, Min Ae

Journal:

Pediatric Rheumatology

Année:

2017

Langue:

english

Fichier:

PDF, 685 KB

english, 2017

29

Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation

Zimmermann, Nick, Wolf, Christine, Schwenke, Reiner, Lüth, Anne, Schmidt, Franziska, Engel, Kerstin, Lee-Kirsch, Min Ae, Günther, Claudia

Journal:

JAMA Dermatology

Année:

2019

Fichier:

PDF, 763 KB

2019

30

NAXD Deficiency Associated with Perinatal Autoinflammation, Pancytopenia, Dermatitis, Colitis, and Cystic Encephalomalacia

Lucas, Nadja, DÃ¼ckers, Gregor, Speckmann, Carsten, Ehl, Stephan, Utz, Norbert, Cheng, Bochen, Fang, Mingyan, Niehues, Tim, Lee-Kirsch, Min Ae

Journal:

Journal of Pediatric Neurology

Année:

2020

Fichier:

PDF, 1.19 MB

2020

31

PNPT1 mutations may cause Aicardi-GoutiÃ¨res-Syndrome

Bamborschke, Daniel, Kreutzer, Mona, Koy, Anne, Koerber, Friederike, Lucas, Nadja, Huenseler, Christoph, Herkenrath, Peter, Lee-Kirsch, Min Ae, Cirak, Sebahattin

Journal:

Brain and Development

Année:

2020

Fichier:

PDF, 671 KB

2020