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The Type I Interferonopathies

Annual review of medicine, 2017-01, Vol.68 (1), p.297-315

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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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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Sensing of RNA stress by mTORC1 drives autoinflammation

The Journal of clinical investigation, 2022-01, Vol.132 (2)

Lee-Kirsch, Min Ae

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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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.468-472

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.1005-1013

2010

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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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Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?

Rheumatology (Oxford, England), 2021-04, Vol.60 (4), p.e136-e138

2021

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

Nature immunology, 2013-01, Vol.14 (1), p.61-71

2013

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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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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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Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in blood

Frontiers in immunology, 2023-09, Vol.14

2023

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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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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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Monogenic lupus – from gene to targeted therapy

Molecular and cellular pediatrics, 2024-12, Vol.11 (1), p.8-7, Article 8

2024

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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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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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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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PNPT1 mutations may cause Aicardi-Goutières-Syndrome

Brain & development (Tokyo. 1979), 2021-02, Vol.43 (2), p.320-324

2021

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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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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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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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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

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

Sensing of RNA stress by mTORC1 drives autoinflammation

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

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

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

Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?

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

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

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

SAMHD1 prevents autoimmunity by maintaining genome stability

Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in blood

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

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

Monogenic lupus – from gene to targeted therapy

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

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

PNPT1 mutations may cause Aicardi-Goutières-Syndrome

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

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

Single-stranded nucleic acids promote SAMHD1 complex formation

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