E. Omoyinmi

发表

British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.

P. Hawkins, C. Papadopoulou, T. Youngstein, 2019, Rheumatology.

Gene hunting in autoinflammation

P. Brogan, E. Omoyinmi, A. Standing, 2013, Clinical and Translational Allergy.

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene

H. Williams, D. Saunders, T. Jacques, 2020, Neurology: Genetics.

Monogenic mimics of Behçet's disease in the young.

F. D’Arco, C. Papadopoulou, K. Gilmour, 2019, Rheumatology.

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation

E. Wassmer, T. Cullup, H. Ahlfors, 2019, JAMA network open.

Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11

D. Saunders, V. Ganesan, D. Eleftheriou, 2018, Neurology.

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

P. Hawkins, P. Pelegrín, J. Aróstegui, 2017, Front. Immunol..

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center

F. Capon, C. Papadopoulou, D. Rowczenio, 2022, Journal of the American Heart Association.

Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3

K. Gilmour, D. Eleftheriou, P. Brogan, 2018, Front. Immunol..

TNF Receptor Associated Periodic Syndrome associated with gonosomal mosaicism of a novel 24 nucleotide TNFRSF1A deletion

P. Hawkins, J. Aróstegui, T. Lane, 2016 .

A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours

D. McCreary, K. Gilmour, D. Eleftheriou, 2022, Frontiers in Immunology.

Concise report Th1 and Th17 cell subpopulations are enriched in the peripheral blood of patients with systemic juvenile idiopathic arthritis

P. Woo, L. Wedderburn, S. Ursu, 2012 .

Efficacy and safety of anakinra for undifferentiated autoinflammatory diseases in children: a retrospective case review

D. Eleftheriou, P. Brogan, E. Omoyinmi, 2019, Rheumatology advances in practice.

Stimulator of Interferon Genes–Associated Vasculitis of Infancy

P. Woo, N. Klein, D. Eleftheriou, 2015, Arthritis & rheumatology.

A Novel Mutation in the X-Linked Inhibitor of Apoptosis Protein Causing a Multi-System Autoinflammatory Disorder

N. Klein, P. Hawkins, K. Gilmour, 2012 .

Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases

N. Klein, K. Gilmour, S. Jolles, 2016, Arthritis & rheumatology.

Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.

D. Lipsker, P. Hawkins, J. Aróstegui, 2018, Blood.

Search for a genetic susceptibility factor ( s ) in Schnitzler ’ s syndrome

D. Lipsker, P. Hawkins, J. Aróstegui, 2017 .

Supplemental Data Additive Loss-of-Function Mutations in Proteasome-Subunit-Genes induce Type-I-interferon production in CANDLE / PRAAS

E. Remmers, A. Mégarbané, K. Rother, 2015 .

A case of Myhre syndrome mimicking juvenile scleroderma

N. Sebire, K. Howell, C. Pilkington, 2020, Pediatric Rheumatology.

Autoinflammation due to homozygous S208 MEFV mutation

N. Sebire, S. Jolles, R. Verstegen, 2018, Annals of the rheumatic diseases.

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

N. Klein, K. Nowak, A. Medlar, 2017, The Journal of experimental medicine.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

E. Remmers, D. Kastner, A. Mégarbané, 2016, Journal of Clinical Investigation.

TRAP1 chaperone protein mutations and autoinflammation

N. Klein, P. Hawkins, C. Paisán-Ruiz, 2019, Life Science Alliance.

De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis

N. Sebire, A. Barnicoat, A. Mauro, 2017, Case reports in pediatrics.

Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome

N. Sebire, N. Klein, S. Compeyrot-Lacassagne, 2019, Pediatrics.

Janus kinase 1/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation

T. Jacques, F. D’Arco, D. Eleftheriou, 2019, The Journal of allergy and clinical immunology.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

E. Remmers, D. Kastner, A. Mégarbané, 2015, The Journal of clinical investigation.

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

Helena Ahlfors, Dorota Rowczenio, Emma Ashton, 2017, PloS one.

Concise Report

P. Woo, L. Wedderburn, S. Ursu, 2022 .

Early-Onset Juvenile SLE Associated With a Novel Mutation in Protein Kinase C δ

M. Eisenhut, D. Eleftheriou, P. Brogan, 2017, Pediatrics.

Erratum: Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type i IFN production (Journal of Clinical Investigation (2015) 125:11 (4196-4211) DOI: 10.1172/JCI81260)

E. Remmers, D. Kastner, A. Mégarbané, 2016 .

Deficiency of Adenosine Deaminase Type 2 (DADA2)

Standing, N. Klein, K. Gilmour, 2020 .

Testicular ischemia in deficiency of adenosine deaminase 2 (DADA2)

N. Sebire, P. Brogan, Muthana Al Obaidi, 2019, Pediatric Rheumatology.

Lentiviral Mediated ADA2 Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2

A. Thrasher, C. Papadopoulou, Fang Zhang, 2022, Frontiers in Immunology.

Mitochondrial and oxidative stress genes are differentially expressed in neutrophils of sJIA patients treated with tocilizumab: a pilot microarray study

M. Hubank, P. Woo, D. Eleftheriou, 2016, Pediatric Rheumatology.

Extensive Oral Scarring and Bilateral Subclavian Artery Stenosis in Pediatric-Onset Behçet's Disease.

M. Singhal, P. Brogan, N. Kakkar, 2018, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

N. Klein, P. Hawkins, J. Aróstegui, 2013, Arthritis & rheumatology.

Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I

N. Klein, V. Leone, K. Gilmour, 2018, Front. Immunol..

FRI0001 NEXT GENERATION SEQUENCING ANALYSIS OF AN NLRP3 MUTATION NEGATIVE CAPS COHORT

N. Klein, J. Aróstegui, P. Brogan, 2019, Poster Presentations.

Janus kinase inhibition for autoinflammation in DNASE2 deficiency.

N. Sebire, A. Bullock, H. Uhlig, 2019, The Journal of allergy and clinical immunology.

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

S. Pittaluga, E. Meffre, S. Hewitt, 2022, Nature Communications.

MUTATIONS IN THE TYROSINE-PROTEIN KINASE LYN CAUSE AN EARLY-ONSET NEUTROPHILIC VASCULITIS SYNDROME

E. Meffre, S. Hewitt, D. Kleiner, 2017 .

Janus kinase 1/2 inhibition with baricitinib in the treatment of juvenile dermatomyositis

C. Papadopoulou, D. Eleftheriou, P. Brogan, 2019, Brain : a journal of neurology.

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report

N. Sebire, D. Rowczenio, D. Eleftheriou, 2021, Pediatric Rheumatology.

Association of the IL-10 Gene Family Locus on Chromosome 1 with Juvenile Idiopathic Arthritis (JIA)

C. Lewis, A. Hinks, W. Thomson, 2012, PloS one.

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature

M. Rustin, E. Omoyinmi, L. Melly, 2014, The British journal of dermatology.

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2

A. Worth, N. Klein, K. Gilmour, 2019, Front. Immunol..

Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation

D. Foell, S. Holland, A. Paller, 2015, Pediatric Rheumatology.

Brief Report: Association of Tumor Necrosis Factor Receptor–Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24‐Nucleotide TNFRSF1A Deletion

P. Hawkins, J. Aróstegui, T. Lane, 2016, Arthritis & rheumatology.

Association of Tumor Necrosis Factor Receptor–Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion

P. Hawkins, T. Lane, D. Rowczenio, 2016 .

Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

M. Swertz, D. Eleftheriou, P. Brogan, 2023, Frontiers in immunology.

Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis

D. Eleftheriou, P. Brogan, F. Price-Kuehne, 2023, Frontiers in Pediatrics.

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4

S. Cooray, V. Sancho-Shimizu, M. Kaliakatsos, 2023, Frontiers in immunology.

Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition

D. Eleftheriou, E. Al-Abadi, E. Moraitis, 2023, Frontiers in Immunology.