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IL-1 blockade in autoinflammatory syndromes

Annual review of medicine, 2014-01, Vol.65 (1), p.223-244

2014

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Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome

Blood, 2018-03, Vol.131 (13), p.1442-1455

2018

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Novel Majeed Syndrome–Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis

Arthritis & rheumatology (Hoboken, N.J.), 2021-06, Vol.73 (6), p.1021-1032

2021

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Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients

Clinical pharmacology and therapeutics, 2018-08, Vol.104 (2), p.364-373

2018

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The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin‐1 Mediated Autoinflammatory Diseases: Cryopyrin‐Associated Periodic Syndromes, Tumour Necrosis Factor Receptor‐Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin‐1 Receptor Antagonist

Arthritis & rheumatology (Hoboken, N.J.), 2022-07, Vol.74 (7), p.1102-1121

2022

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Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene

Stem cell research, 2022-10, Vol.64, p.102933-102933, Article 102933

2022

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Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy

Journal of the American Academy of Dermatology, 2016-01, Vol.74 (1), p.186-189

2016

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A clinical score to guide in decision making for monogenic type I IFNopathies

Pediatric research, 2020-03, Vol.87 (4), p.745-752

2020

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Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING gene

Stem cell research, 2022-12, Vol.65, p.102974-102974, Article 102974

2022

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Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies

Arthritis research & therapy, 2020-04, Vol.22 (1), p.69-12, Article 69

2020

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Anakinra-Associated Amyloidosis

JAMA dermatology (Chicago, Ill.), 2022-12, Vol.158 (12), p.1454

2022

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Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A)

Stem cell research, 2022-07, Vol.62, p.102820-102820, Article 102820

2022

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Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype

The Journal of clinical investigation, 2022-03, Vol.132 (6), p.1

2022

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Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN

Journal of clinical immunology, 2017-07, Vol.37 (5), p.445-451

2017

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A novel mutation of IL1RN in the deficiency of interleukin‐1 receptor antagonist syndrome: Description of two unrelated cases from Brazil

Arthritis & rheumatology (Hoboken, N.J.), 2011-12, Vol.63 (12), p.4007-4017

2011

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NEMO-NDAS: A Panniculitis in the Young Representing an Autoinflammatory Disorder in Disguise

The American journal of dermatopathology, 2022-06, Vol.44 (6), p.e64-e66

2022

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Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation

Frontiers in immunology, 2021-03, Vol.12, p.636225

2021

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JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

The Journal of clinical investigation, 2018-07, Vol.128 (7), p.3041-3052

2018

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An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

Nature genetics, 2014-10, Vol.46 (10), p.1140-1146

2014

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Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition

Journal of allergy and clinical immunology, 2019-10, Vol.144 (4), p.1122-1125.e6

2019

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A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)

Journal of allergy and clinical immunology, 2020-11, Vol.146 (5), p.1204-1208.e6

2020

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Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation

Frontiers in pediatrics, 2023-03, Vol.11, p.1108207

2023

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Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene

Stem cell research, 2024-10, Vol.80, p.103517, Article 103517

2024

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Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation

Stem cell research, 2024-10, Vol.80, p.103504, Article 103504

2024

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IL-1 blockade in autoinflammatory syndromes

Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome

Novel Majeed Syndrome–Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis

Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients

Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene

Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy

A clinical score to guide in decision making for monogenic type I IFNopathies

Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING gene

Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies

Anakinra-Associated Amyloidosis

Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A)

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype

Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN

A novel mutation of IL1RN in the deficiency of interleukin‐1 receptor antagonist syndrome: Description of two unrelated cases from Brazil

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

NEMO-NDAS: A Panniculitis in the Young Representing an Autoinflammatory Disorder in Disguise

Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition

A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)

Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation

Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene

Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation

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