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The Type I Interferonopathies

Annual review of medicine, 2017-01, Vol.68, p.297

Lee-Kirsch, Min Ae

2017

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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS

Arthritis & rheumatology (Hoboken, N.J.), 2022-05, Vol.74 (5), p.735-751

2022

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

Journal of investigative dermatology, 2011-08, Vol.131 (8), p.1644-1649

2011

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More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation

Pediatric allergy and immunology, 2021-05, Vol.32 (4), p.793-797

2021

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

PLoS genetics, 2015-03, Vol.11 (3), p.e1005076-e1005076

2015

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

Annals of the rheumatic diseases, 2017-02, Vol.76 (2), p.468

2017

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

Nature immunology, 2010-11, Vol.11 (11), p.1005

2010

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Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors

Genes, 2020-05, Vol.11 (5), p.511

2020

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RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

Nature communications, 2016-05, Vol.7 (1), p.11752-11752, Article 11752

2016

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SAMHD1 prevents autoimmunity by maintaining genome stability

Annals of the rheumatic diseases, 2014-01, Vol.74 (3), p.e17-e17

2014

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Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK

Journal of allergy and clinical immunology, 2022-04, Vol.149 (4), p.1464-1472.e3

2022

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Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations

Stem cell research, 2022-10, Vol.64, p.102912-102912, Article 102912

2022

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Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations

Stem cell research, 2022-10, Vol.64, p.102895-102895, Article 102895

2022

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An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.474-474, Article 474

2021

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A common variant on chromosome 11q13 is associated with atopic dermatitis

Nature genetics, 2009-05, Vol.41 (5), p.596-601

2009

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A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report

Pediatric rheumatology online journal, 2024-01, Vol.22 (1), p.9-9, Article 9

2024

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Single-stranded nucleic acids promote SAMHD1 complex formation

Journal of molecular medicine (Berlin, Germany), 2013-06, Vol.91 (6), p.759-770

2013

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Rapid and sustained response to JAK inhibition in a child with severe MDA5 + juvenile dermatomyositis

Pediatric rheumatology online journal, 2023-09, Vol.21 (1), p.104-104, Article 104

2023

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Transition for adolescents with a rare disease: results of a nationwide German project

Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.93-93, Article 93

2023

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Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report

Pediatric rheumatology online journal, 2022-04, Vol.20 (1), p.24-24, Article 24

2022

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Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

Frontiers in immunology, 2022-10, Vol.13, p.1029423-1029423

2022

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Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome

Human molecular genetics, 2014-11, Vol.23 (22), p.5950-5960

2014

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One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency

Frontiers in immunology, 2021-08, Vol.12, p.680334-680334

2021

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

The Journal of immunology (1950), 2017-10, Vol.199 (7), p.2261-2269

2017

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

Nature genetics, 2007-09, Vol.39 (9), p.1065-1067

2007

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The Type I Interferonopathies

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS

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

More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation

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

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

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

Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

SAMHD1 prevents autoimmunity by maintaining genome stability

Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK

Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations

Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations

An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee

A common variant on chromosome 11q13 is associated with atopic dermatitis

A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report

Single-stranded nucleic acids promote SAMHD1 complex formation

Rapid and sustained response to JAK inhibition in a child with severe MDA5 + juvenile dermatomyositis

Transition for adolescents with a rare disease: results of a nationwide German project

Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report

Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency

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

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

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