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288 results on '"Arkwright, P. D."'

1. Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

Author

Utsumi, Takanori, Tsumura, Miyuki, Yashiro, Masato, Kato, Zenichiro, Noma, Kosuke, Sakura, Fumiaki, Kagawa, Reiko, Mizoguchi, Yoko, Karakawa, Shuhei, Ohnishi, Hidenori, Cunningham-Rundles, Charlotte, Arkwright, Peter D., Kobayashi, Masao, Kanegane, Hirokazu, Bogunovic, Dusan, Boisson, Bertrand, Casanova, Jean-Laurent, Asano, Takaki, and Okada, Satoshi

Published
2024
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2. Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

Author

Utsumi, Takanori, Tsumura, Miyuki, Yashiro, Masato, Kato, Zenichiro, Noma, Kosuke, Sakura, Fumiaki, Kagawa, Reiko, Mizoguchi, Yoko, Karakawa, Shuhei, Ohnishi, Hidenori, Cunningham-Rundles, Charlotte, Arkwright, Peter D., Kobayashi, Masao, Kanegane, Hirokazu, Bogunovic, Dusan, Boisson, Bertrand, Casanova, Jean-Laurent, Asano, Takaki, and Okada, Satoshi

Published
2024
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9. Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Author

Zielen, Stefan, Duecker, Ruth Pia, Woelke, Sandra, Donath, Helena, Bakhtiar, Sharhzad, Buecker, Aileen, Kreyenberg, Hermann, Huenecke, Sabine, Bader, Peter, Mahlaoui, Nizar, Ehl, Stephan, El-Helou, Sabine M., Pietrucha, Barbara, Plebani, Alessandro, van der Flier, Michiel, van Aerde, Koen, Kilic, Sara S., Reda, Shereen M., Kostyuchenko, Larysa, McDermott, Elizabeth, Galal, Nermeen, Pignata, Claudio, Pérez, Juan Luis Santos, Laws, Hans-Juergen, Niehues, Tim, Kutukculer, Necil, Seidel, Markus G., Marques, Laura, Ciznar, Peter, Edgar, John David M., Soler-Palacín, Pere, von Bernuth, Horst, Krueger, Renate, Meyts, Isabelle, Baumann, Ulrich, Kanariou, Maria, Grimbacher, Bodo, Hauck, Fabian, Graf, Dagmar, Granado, Luis Ignacio Gonzalez, Prader, Seraina, Reisli, Ismail, Slatter, Mary, Rodríguez-Gallego, Carlos, Arkwright, Peter D., Bethune, Claire, Deripapa, Elena, Sharapova, Svetlana O., Lehmberg, Kai, Davies, E. Graham, Schuetz, Catharina, Kindle, Gerhard, and Schubert, Ralf

Published
2021
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12. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Author

Lyons, Jonathan J, Yu, Xiaomin, Hughes, Jason D, Le, Quang T, Jamil, Ali, Bai, Yun, Ho, Nancy, Zhao, Ming, Liu, Yihui, O'Connell, Michael P, Trivedi, Neil N, Nelson, Celeste, DiMaggio, Thomas, Jones, Nina, Matthews, Helen, Lewis, Katie L, Oler, Andrew J, Carlson, Ryan J, Arkwright, Peter D, Hong, Celine, Agama, Sherene, Wilson, Todd M, Tucker, Sofie, Zhang, Yu, McElwee, Joshua J, Pao, Maryland, Glover, Sarah C, Rothenberg, Marc E, Hohman, Robert J, Stone, Kelly D, Caughey, George H, Heller, Theo, Metcalfe, Dean D, Biesecker, Leslie G, Schwartz, Lawrence B, and Milner, Joshua D

Subjects
Biological Sciences, Ecology, Digestive Diseases, Adolescent, Adult, Aged, Child, Chronic Pain, Connective Tissue Diseases, DNA Copy Number Variations, Dysautonomia, Familial, Female, Gastrointestinal Diseases, Humans, Male, Middle Aged, Pruritus, Skin Diseases, Tryptases, Young Adult, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics
Abstract

Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints. Individuals harboring alleles encoding three copies of α-tryptase had higher basal serum levels of tryptase and were more symptomatic than those with alleles encoding two copies, suggesting a gene-dose effect. Further, we found in two additional cohorts (172 individuals) that elevated basal serum tryptase levels were exclusively associated with duplication of α-tryptase-encoding sequence in TPSAB1, and affected individuals reported symptom complexes seen in our initial familial cohort. Thus, our findings link duplications in TPSAB1 with irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia.

Published
2016

13. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

Author

Engelhardt, Karin R, Shah, Neil, Faizura-Yeop, Intan, Kocacik Uygun, Dilara F, Frede, Natalie, Muise, Aleixo M, Shteyer, Eyal, Filiz, Serkan, Chee, Ronnie, Elawad, Mamoun, Hartmann, Britta, Arkwright, Peter D, Dvorak, Christopher, Klein, Christoph, Puck, Jennifer M, Grimbacher, Bodo, and Glocker, Erik-Oliver

Subjects
Humans, Colitis, Immunologic Deficiency Syndromes, Interleukin-10, Hematopoietic Stem Cell Transplantation, Mutation, Adult, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Receptors, Interleukin-10, Stem Cell Research, Stem Cell Research - Nonembryonic - Human, Rare Diseases, Transplantation, Pediatric, Stem Cell Research - Nonembryonic - Non-Human, Clinical Research, Regenerative Medicine, Digestive Diseases, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Inflammatory and immune system, IL-10, IL-10 receptor, enterocolitis, mutations, colectomy, hematopoietic stem cell transplantation, Immunology, Allergy
Abstract

BackgroundInherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis.ObjectivesWe sought to gather clinical data of IL-10/IL-10R-deficient patients and devise guidelines for diagnosis and management, including hematopoietic stem cell transplantation (HSCT).MethodsWe enrolled 40 patients with early-onset enterocolitis and screened for mutations in IL10/IL10R using genetic studies, functional studies, or both of the IL-10 signaling pathway. Medical records of IL-10/IL-10R-deficient patients were reviewed and compiled.ResultsOf 40 patients, we identified 7 with novel mutations, predominantly in consanguineous families with more than 1 affected member. IL-10/IL-10R-deficient patients had intractable enterocolitis, perianal disease, and fistula formation. HSCT was carried out in 2 patients with IL-10 deficiency and 1 patient with IL-10R α chain deficiency and proved to be an effective therapy, leading to rapid improvement of clinical symptoms and quality of life.ConclusionBecause the defect in patients with IL-10/IL-10R deficiency resides in hematopoietic lineage cells and their colitis is resistant to standard immunosuppressive therapy, HSCT should be considered early as a potentially curative therapeutic option.

Published
2013

18. Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Author

Dang, Tarana Singh, Willet, Joseph DP, Griffin, Helen R, Morgan, Neil V, O’Boyle, Graeme, Arkwright, Peter D, Hughes, Stephen M, Abinun, Mario, Tee, Louise J, Barge, Dawn, Engelhardt, Karin R, Jackson, Michael, Cant, Andrew J, Maher, Eamonn R, Koref, Mauro Santibanez, Reynard, Louise N, Ali, Simi, and Hambleton, Sophie

Published
2016
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21. Dupilumab in children aged 6 months to younger than 6 years with uncontrolled atopic dermatitis: a randomised, double-blind, placebo-controlled, phase 3 trial

Author

Paller, Amy S, Simpson, Eric L, Siegfried, Elaine C, Cork, Michael J, Wollenberg, Andreas, Arkwright, Peter D, Soong, Weily, Gonzalez, Mercedes E, Schneider, Lynda C, Sidbury, Robert, Lockshin, Benjamin, Meltzer, Steven, Wang, Zhixiao, Mannent, Leda P, Amin, Nikhil, Sun, Yiping, Laws, Elizabeth, Akinlade, Bolanle, Dillon, Myles, Kosloski, Matthew P, Kamal, Mohamed A, Dubost-Brama, Ariane, Patel, Naimish, Weinreich, David M, Yancopoulos, George D, O’Malley, John T, Bansal, Ashish, Pepper, Amber, Paller, Amy S, Lockshin, Benjamin, Cohen, David, Pariser, David, Siegfried, Elaine C, Simpson, Eric L, Leflein, Jeffrey, Weinberg, Jeffrey, Browning, John, Teng, Joyce, Wine Lee, Lara, Sher, Lawrence, Diaz, Lucia, Schneider, Lynda, Gonzalez, Mercedes E, Rupp, Ned, Ong, Peck, Cartwright, Robert, Sidbury, Robert, Soong, Weily, Pinter, Andreas, Wollenberg, Andreas, Schnopp, Christina, Cork, Michael J, Arkwright, Peter D, Korkosz, Anna, Bystrzanowska, Dorota, Sygula, Ewa, Zdybski, Jacek, and Padlewska, Kamila

Abstract

Current systemic treatments for children younger than 6 years with moderate-to-severe atopic dermatitis that is uncontrolled with topical therapies might have suboptimal efficacy and safety. Dupilumab is approved for older children and adults with atopic dermatitis and for other type 2 inflammatory conditions. We aimed to evaluate efficacy and safety of dupilumab with concomitant low-potency topical corticosteroids in children aged 6 months to younger than 6 years with moderate-to-severe atopic dermatitis.

Published
2022
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22. DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Author

Boussard, Charlotte, Delage, Laure, Gajardo, Tania, Kauskot, Alexandre, Batignes, Maxime, Goudin, Nicolas, Stolzenberg, Marie-Claude, Brunaud, Camille, Panikulam, Patricia, Riller, Quentin, Moya-Nilges, Maryse, Solarz, Jean, Repérant, Christelle, Durel, Béatrice, Bordet, Jean-Claude, Pellé, Olivier, Lebreton, Corinne, Magérus, Aude, Pirabakaran, Vithura, Vargas, Pablo, Dupichaud, Sébastien, Jeanpierre, Marie, Vinit, Angélique, Zarhrate, Mohammed, Masson, Cécile, Aladjidi, Nathalie, Arkwright, Peter D., Bader-Meunier, Brigitte, Baron Joly, Sandrine, Benadiba, Joy, Bernard, Elise, Berrebi, Dominique, Bodemer, Christine, Castelle, Martin, Charbit-Henrion, Fabienne, Chbihi, Marwa, Debray, Agathe, Drabent, Philippe, Fraitag, Sylvie, Hié, Miguel, Landman-Parker, Judith, Lhermitte, Ludovic, Moshous, Despina, Rohrlich, Pierre, Ruemmele, Frank, Welfringer-Morin, Anne, Tusseau, Maud, Belot, Alexandre, Cerf-Bensussan, Nadine, Roelens, Marie, Picard, Capucine, Neven, Bénédicte, Fischer, Alain, Callebaut, Isabelle, Ménager, Mickaël, Sepulveda, Fernando E., Adam, Frédéric, and Rieux-Laucat, Frédéric

Abstract

•DOCK11 deficiency is a new X-linked immune-related actinopathy.•DOCK11 deficiency leads to impaired CDC42 activity, abnormal actin cytoskeleton remodeling, and immune dysregulation.

Published
2023
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26. The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 yearsʼ activity 2008-2012

Author

Edgar, J. D. M., Buckland, M., Guzman, D., Conlon, N. P., Knerr, V., Bangs, C., Reiser, V., Panahloo, Z., Workman, S., Slatter, M., Gennery, A. R., Davies, E. G., Allwood, Z., Arkwright, P. D., Helbert, M., Longhurst, H. J., Grigoriadou, S., Devlin, L. A., Huissoon, A., Krishna, M. T., Hackett, S., Kumararatne, D. S., Condliffe, A. M., Baxendale, H., Henderson, K., Bethune, C., Symons, C., Wood, P., Ford, K., Patel, S., Jain, R., Jolles, S., El-Shanawany, T., Alachkar, H., Herwadkar, A., Sargur, R., Shrimpton, A., Hayman, G., Abuzakouk, M., Spickett, G., Darroch, C. J., Paulus, S., Marshall, S. E., McDermott, E. M., Heath, P. T., Herriot, R., Noorani, S., Turner, M., Khan, S., and Grimbacher, B.

Published
2014
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27. Impact of a Decade of Research Into Atopic Dermatitis

Author

Arkwright, Peter D. and Koplin, Jennifer J.

Abstract

The last decade has seen an unprecedented pace of change, particularly of clinical research in atopic dermatitis (AD). This review summarizes some key discoveries. Over the last 10 years, nearly half of all studies investigated the efficacy and safety of novel therapeutic agents, particularly biologics and small molecules. Clear demonstration of benefit in clinical trials with no significant safety concerns provided strong evidence leading to subsequent Food and Drug Administration approval and routine use of the anti–IL-4 receptor alpha antagonist dupilumab in patients 6 months and older, the selective Janus kinase 1 (JAK1) inhibitors upadacitinib for patients 12 years and older and abrocitinib, the IL-13 antagonist tralokinumab, and the JAK1/2 inhibitor baricitinib for adults 18 years and older. Several other drugs are in the pipeline. Other areas under the spotlight have been trials of skin moisturizers and probiotics in the prevention of AD, investigating the role of filaggrin and skin barrier function and the role of skin and gut microbiome, with Staphylococcus aureussecond immunoglobulin-binding protein having been found to uniquely trigger allergic skin responses in AD. Skin microbiome, epidermal metabolites/structural components, and local inflammatory biomarkers are now commonly assessed using genomic and proteomic analysis of tape strips rather than more invasive biopsy to identify factors such as C-C motif chemokine ligand-17 that correlate with disease severity and response to therapy. Overall, the last decade has ushered in a new and exciting era in our understanding, diagnosis, and treatment of this common allergic skin disease.

Published
2023
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28. Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Author

Dang, Tarana Singh, Willet, Joseph D. P., Griffin, Helen R., Morgan, Neil V., O’Boyle, Graeme, Arkwright, Peter D., Hughes, Stephen M., Abinun, Mario, Tee, Louise J., Barge, Dawn, Engelhardt, Karin R., Jackson, Michael, Cant, Andrew J., Maher, Eamonn R., Koref, Mauro Santibanez, Reynard, Louise N., Ali, Simi, and Hambleton, Sophie

Published
2016
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30. Surveillance and control of meningococcal disease in the COVID-19 era: A Global Meningococcal Initiative review.

Author

Alderson, Mark R., Arkwright, Peter D., Bai, Xilian, Black, Steve, Borrow, Ray, Caugant, Dominique A., Dinleyici, Ener Cagri, Harrison, Lee H., Lucidarme, Jay, McNamara, Lucy A., Meiring, Susan, Sáfadi, Marco A.P., Shao, Zhujun, Stephens, David S., Taha, Muhamed-Kheir, Vazquez, Julio, Zhu, Bingqing, and collaborators, GMI

Abstract

This review article incorporates information from the 4th Global Meningococcal Initiative summit meeting. Since the introduction of stringent COVID-19 infection control and lockdown measures globally in 2020, there has been an impact on IMD prevalence, surveillance, and vaccination compliance. Incidence rates and associated mortality fell across various regions during 2020. A reduction in vaccine uptake during 2020 remains a concern globally. In addition, several Neisseria meningitidis clonal complexes, particularly CC4821 and CC11, continue to exhibit resistance to antibiotics, with resistance to ciprofloxacin or beta-lactams mainly linked to modifications of gyrA or penA alleles, respectively. Beta-lactamase acquisition was also reported through horizontal gene transfer (blaROB-1) involving other bacterial species. Despite the challenges over the past year, progress has also been made on meningococcal vaccine development, with several pentavalent (serogroups ABCWY and ACWYX) vaccines currently being studied in late-stage clinical trial programmes. [ABSTRACT FROM AUTHOR]

Published
2022
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32. Differences in Ig Replacement Therapy Dosing in Patients with Common Variable Immunodeficiency in Europe: Results from the ESID Database: 43

Author

Gathmann, B., Mahlaoui, N., Warnatz, K., Kuijpers, T. W., Kilic, S. S., Thon, V., Arkwright, P. D., Kumararatne, D., Exley, A., Borte, M., Jones, A., Belohradsky, B. H., Baumann, U., Kütükcüler, N., Witte, T., Feighery, C., Wagström, P., Longhurst, H., Linde, R., Ritterbusch, H., Farmaki, E., Sediva, A., Papadopoulou-Alataki, E., Panahloo, Z., and Grimbacher, B.

Published
2011

50. Challenges in investigating patients with isolated decreased serum IgM: The SIMcal study

Author

Janssen, Lisanne M A, van Hout, Roeland W N M, de Vries, Esther, Pignata, C, Cirillo, E, Arkwright, P D, Lougaris, V, Buckland, M, Garcia-Prat, M, d'Hebron, V, Soler-Palacin, P, Ouederni, M, Kralickova, P, Abolhassani, H, Hammerstrom, L, Aghamohamamdi, A, Santos-Pérez, J L, Sobh A, van de Werff Ten Bosch, J, Henriet, S, Kilic, S S, Karali, Y, Gonzalez-Granado, L I, Sediva, A, Huisarts & Ziekenhuis, Tranzo, Scientific center for care and wellbeing, Janssen, Lisanne M A, van Hout, Roeland W N M, de Vries, Esther, Pignata, C, Cirillo, E, Arkwright, P D, Lougaris, V, Buckland, M, Garcia-Prat, M, D'Hebron, V, Soler-Palacin, P, Ouederni, M, Kralickova, P, Abolhassani, H, Hammerstrom, L, Aghamohamamdi, A, Santos-Pérez, J L, Sobh, A, van de Werff Ten, Bosch, J, Henriet, S, Kilic, S S, Karali, Y, Gonzalez-Granado, L I, and Sediva, A

Subjects
Male, 0301 basic medicine, Pediatrics, unclassified antibody deficiency, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Immunologic Deficiency Syndromes/blood, Human Immunology, 0302 clinical medicine, Decreased serum IgM, T-Lymphocyte Subsets, Young adult, Child, Respiratory Tract Infections, IgM deficiency, biology, primary selective IgM deficiency, General Medicine, Middle Aged, Child, Preschool, Cohort, Variation and Distance, Female, medicine.symptom, Antibody, B-Lymphocyte Subsets/cytology, Adult, medicine.medical_specialty, Adolescent, Asymptomatic Diseases/epidemiology, Immunology, B-Lymphocyte Subsets, Respiratory Tract Infections/epidemiology, primary immunodeficiency, Asymptomatic, Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Humans, In patient, Preschool, business.industry, Immunologic Deficiency Syndromes, Infant, Newborn, Infant, Newborn, Immunoglobulin M/blood, medicine.disease, Language & Communication, T-Lymphocyte Subsets/cytology, 030104 developmental biology, Immunoglobulin M, Asymptomatic Diseases, Primary immunodeficiency, biology.protein, business, 030215 immunology
Abstract

The clinical consequences of isolated decreased serum immunoglobulin (Ig)M are not sufficiently known. Therefore, it is difficult to determine the clinical policy following such a finding. Only few reported IgM‐deficient patients fulfil the European Society for Immunodeficiencies (ESID) diagnostic criteria for selective IgM deficiency (true sIgMdef), or their diagnosis is uncertain due to insufficient laboratory data (possible sIgMdef). Decreased serum IgM is often incidentally found in asymptomatic adults. The objective of our study was to further characterize true sIgMdef and to compare the European data collected through the ESID Registry community (tertiary centres) to our previously published Dutch cohort (secondary centre). Fifteen centres (12 countries) participated with 98 patients. Patients were excluded if serum IgM was only determined once (n = 14), had normalized (n = 8), or if they also had other immunological abnormalities (n = 15). Ten patients (5 adults) completely fulfilled the ESID criteria for true sIgMdef. Age‐matched cut‐off values varied widely between centres; when using the ESID diagnostic protocol reference values, only six patients (five adults) had true sIgMdef. Because of these small numbers, further analyses were performed in patients with true or possible sIgMdef (13 adults, 48 children). Respiratory infections were commonly reported at presentation (adults 54%, children 60%). Symptomatic adults had lower serum IgM levels (mean 0.27 g/L, 95% CI 0.22‐0.31) than those without symptoms (mean 0.33 g/L, 95% CI 0.30‐0.36; P = 0.02). To be able to explore the clinical consequences of true sIgMdef, we should fully analyse and accurately describe those patients in whom a decreased serum IgM is found.

Published
2019

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