Search Results - "Omoyinmi, E"

Monogenic mimics of Behçet’s disease in the young by Papadopoulou, C, Omoyinmi, E, Standing, A, Pain, C E, Booth, C, D’Arco, F, Gilmour, K, Buckland, M, Eleftheriou, D, Brogan, P A

“…Abstract Objectives Monogenic autoinflammatory disorders (AID) and primary immunodeficiencies can present early in life with features that may be mistaken for…”
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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature by Kluk, J., Rustin, M., Brogan, P.A., Omoyinmi, E., Rowczenio, D.M., Willcocks, L.C., Melly, L., Lachmann, H.J.

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First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene by Rowczenio, D, Omoyinmi, E, Trojer, H, Lane, T, Brogan, P, Hawkins, P, Lachmann, H

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Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA by Gomes, S Melo, Arostegui, J, Omoyinmi, E, Standing, A, Klein, N, Lachmann, H, Hawkins, P, Brogan, P

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Monogenic polyarteritis nodosa caused by ADA2 Deficiency: the GOSH experience by Nanthapisal, S, Murphy, C, Omoyinmi, E, Standing, A, Hong, Y, Gomes, SM, Klein, N, Eleftheriou, D, Brogan, PA

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Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients by Rowczenio, D, Gomes, S Melo, Aróstegui, J, Omoyinmi, E, Gonzalez-Roca, E, Standing, A, Eleftheriou, D, Klein, N, Brogan, P, Lachmann, H, Hawkins, P

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Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred by Standing, A, Eleftheriou, D, Paisan-Ruiz, C, Rowcenzio, D, Hong, Y, Omoyinmi, E, Woo, P, Hawkins, P, Lachmann, H, Klein, N, Brogan, P

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Severe autoinflammatory disease caused by mutation in a gene controlling actin cytoskeletal dynamics and cure with allogeneic haematopoetic stem cell transplantation by Standing, A, Malinova, D, Record, J, Moulding, D, Blundell, M, Nowak, K, Jones, H, Omoyinmi, E, Nanthapisal, S, Gomes, S Melo, Hong, Y, Klein, N, Eleftheriou, D, Thrasher, A, Brogan, P

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Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation by Malle, L, Marrero, B, Liu, Y, Montealegre, G, Chapelle, D, Kim, H, O'Brien, M, Hill, S, Fontana, JR, Ramsey, S, Duckers, G, Ozen, S, Issekutz, A, Wittkowski, H, Foell, D, Tenbrock, K, Jones, O, Holland, S, Gonzalez, B, Brogan, P, Omoyinmi, E, Gomes, S Melo, Paller, A, Deng, Z, Goldback-Mansky, R, de Jesus, A Almeida

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Genetic analysis of NLRP3 in recurrent pericarditis by Peet, C J, Rowczenio, D, Omoyinmi, E, Capon, F, Lachmann, H J

“…Abstract Background The mechanisms underlying recurrent pericarditis are poorly understood, although the efficacy of colchicine and targeted inhibitors of the…”
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Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases by Nanthapisal, Sira, Murphy, Claire, Omoyinmi, Ebun, Hong, Ying, Standing, Ariane, Berg, Stefan, Ekelund, Maria, Jolles, Stephen, Harper, Lorraine, Youngstein, Taryn, Gilmour, Kimberly, Klein, Nigel J., Eleftheriou, Despina, Brogan, Paul A.

“…Objective To describe the clinical features, genotype, and treatment in a series of subjects with confirmed adenosine deaminase 2 (ADA2) deficiency. Methods…”
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Th1 and Th17 cell subpopulations are enriched in the peripheral blood of patients with systemic juvenile idiopathic arthritis by OMOYINMI, Ebun, HAMAOUI, Raja, PESENACKER, Anne, NISTALA, Kiran, MONCRIEFFE, Halima, URSU, Simona, WEDDERBURN, Lucy R, WOO, Patricia

“…The role of the adaptive immune system has not been explored in detail compared with the innate immune system in systemic JIA (sJIA) pathogenesis. The aim of…”
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Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation by McCreary, Dara, Omoyinmi, Ebun, Hong, Ying, Mulhern, Ciara, Papadopoulou, Charalampia, Casimir, Marina, Hacohen, Yael, Nyanhete, Rodney, Ahlfors, Helena, Cullup, Thomas, Lim, Ming, Gilmour, Kimberly, Mankad, Kshitij, Wassmer, Evangeline, Berg, Stefan, Hemingway, Cheryl, Brogan, Paul, Eleftheriou, Despina

“…Neuroinflammatory disorders are a range of severe neurological disorders causing brain and spinal inflammation and are now increasingly recognized in the…”
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PW02-031 - Genetic and clinical manifestations of CAPS by Bybee, AK, Lachmann, H, Omoyinmi, E, Nedjai, B, Woo, P, Lane, T, Savic, S, Hawkins, P, McDermott, M

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