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Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed

Annual review of genomics and human genetics, 2016-08, Vol.17 (1), p.245-272

2016

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Hyper-IgD syndrome or mevalonate kinase deficiency

Current opinion in rheumatology, 2011-09, Vol.23 (5), p.419-423

2011

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Sustained efficacy of the monoclonal anti-interleukin-1 beta antibody canakinumab in a 9-month trial in Schnitzler's syndrome

Annals of the rheumatic diseases, 2013-10, Vol.72 (10), p.1634-1638

2013

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Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

Journal of allergy and clinical immunology, 2015-02, Vol.135 (2), p.561-564.e4

2015

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Inflammasome-independent modulation of cytokine response by autophagy in human cells

PloS one, 2011-04, Vol.6 (4), p.e18666-e18666

2011

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The dectin-1/inflammasome pathway is responsible for the induction of protective T-helper 17 responses that discriminate between yeasts and hyphae of Candida albicans

Journal of leukocyte biology, 2011-08, Vol.90 (2), p.357-366

2011

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Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa

Ophthalmology (Rochester, Minn.), 2013-12, Vol.120 (12), p.2697-2705

2013

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ATP-Induced IL-1Î² Specific Secretion: True Under Stringent Conditions

Frontiers in immunology, 2015-02, Vol.6

2015

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Hyper-IgD syndrome or mevalonate kinase deficiency

Current opinion in rheumatology, 2011-09, Vol.23 (5), p.419-423

2011

Volltextzugriff (PDF)

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

Nature (London), 2020-01, Vol.577 (7788), p.103-108

2020

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TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome

Rheumatology (Oxford, England), 2015-02, Vol.54 (2), p.363-368

2015

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MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

Annals of the rheumatic diseases, 2014-02, Vol.73 (2), p.455-461

2014

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The role of interleukin-1 beta in the pathophysiology of Schnitzler's syndrome

Arthritis research & therapy, 2015-07, Vol.17 (1), p.187-187, Article 187

2015

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ATP-Induced IL-1β Specific Secretion: True Under Stringent Conditions

Frontiers in immunology, 2015, Vol.6, p.54-54

2015

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The influence of concentration/meditation on autonomic nervous system activity and the innate immune response: a case study

Psychosomatic medicine, 2012-06, Vol.74 (5), p.489-494

2012

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The discriminative capacity of soluble Toll-like receptor (sTLR)2 and sTLR4 in inflammatory diseases

BMC immunology, 2014-11, Vol.15 (1), p.55-55, Article 55

2014

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Variable expression and treatment of PAPA syndrome

Annals of the rheumatic diseases, 2011-06, Vol.70 (6), p.1168-1170

2011

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Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome

Nature genetics, 2015-12, Vol.48 (1), p.67-73

2015

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Mevalonate kinase deficiency nomenclature

Rheumatology international, 2014-02, Vol.34 (2), p.295-296

2014

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The Concept of Autoinflammatory Diseases

The Autoimmune Diseases, 2014, p.39-50

2014

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Changing S261, including constitutive phosphorylation, enhances AQP2 ubiquitination and internalization

The FASEB journal, 2009-04, Vol.23 (S1)

2009

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TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

Pediatric rheumatology online journal, 2014-09, Vol.12 (S1), p.O21-O21, Article O21

2014

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Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus

Human mutation, 2009-10, Vol.30 (10), p.1387-1396

2009

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Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Hyper-IgD syndrome or mevalonate kinase deficiency

Sustained efficacy of the monoclonal anti-interleukin-1 beta antibody canakinumab in a 9-month trial in Schnitzler's syndrome

Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

Inflammasome-independent modulation of cytokine response by autophagy in human cells

The dectin-1/inflammasome pathway is responsible for the induction of protective T-helper 17 responses that discriminate between yeasts and hyphae of Candida albicans

Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa

ATP-Induced IL-1Î² Specific Secretion: True Under Stringent Conditions

Hyper-IgD syndrome or mevalonate kinase deficiency

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome

Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

The role of interleukin-1 beta in the pathophysiology of Schnitzler's syndrome

ATP-Induced IL-1β Specific Secretion: True Under Stringent Conditions

The influence of concentration/meditation on autonomic nervous system activity and the innate immune response: a case study

The discriminative capacity of soluble Toll-like receptor (sTLR)2 and sTLR4 in inflammatory diseases

Variable expression and treatment of PAPA syndrome

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome

Mevalonate kinase deficiency nomenclature

The Concept of Autoinflammatory Diseases

Changing S261, including constitutive phosphorylation, enhances AQP2 ubiquitination and internalization

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus

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