Search Results - "Derfalvi, Beata"

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling by Nunes-Santos, Cristiane J., Kuehn, HyeSun, Boast, Brigette, Hwang, SuJin, Kuhns, Douglas B., Stoddard, Jennifer, Niemela, Julie E., Fink, Danielle L., Pittaluga, Stefania, Abu-Asab, Mones, Davies, John S., Barr, Valarie A., Kawai, Tomoki, Delmonte, Ottavia M., Bosticardo, Marita, Garofalo, Mary, Carneiro-Sampaio, Magda, Somech, Raz, Gharagozlou, Mohammad, Parvaneh, Nima, Samelson, Lawrence E., Fleisher, Thomas A., Puel, Anne, Notarangelo, Luigi D., Boisson, Bertrand, Casanova, Jean-Laurent, Derfalvi, Beata, Rosenzweig, Sergio D.

“…We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting…”
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Highly efficient serum-free manipulation of miRNA in human NK cells without loss of viability or phenotypic alterations is accomplished with TransIT-TKO by Hargreaves, Breanna K V, Roberts, Sarah E, Derfalvi, Beata, Boudreau, Jeanette E

“…Natural killer (NK) cells are innate lymphocytes with functions that include target cell killing, inflammation and regulation. NK cells integrate incoming…”
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The Role of Type III Interferons in Human Disease by Malik, Aniko E., Issekutz, Thomas B., Derfalvi, Beata

“…Purpose: This literature review summarizes the main immunological characteristics of type III interferons (IFN) and highlights the clinically relevant aspects…”
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High Dose Intravenous IgG Therapy Modulates Multiple NK Cell and T Cell Functions in Patients With Immune Dysregulation by McAlpine, Sarah M., Roberts, Sarah E., Heath, John J., Käsermann, Fabian, Issekutz, Andrew C., Issekutz, Thomas B., Derfalvi, Beata

“…Intravenous immunoglobulin (IVIG) is an effective immunomodulatory treatment for immune dysregulation diseases. However, the mechanisms by which it reduces…”
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COVID-19 vaccine testing & administration guidance for allergists/immunologists from the Canadian Society of Allergy and Clinical Immunology (CSACI) by Vander Leek, Timothy K, Chan, Edmond S, Connors, Lori, Derfalvi, Beata, Ellis, Anne K, Upton, Julia E M, Abrams, Elissa M

“…Safe and effective vaccines provide the first hope for mitigating the devastating health and economic impacts resulting from coronavirus disease 2019…”
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Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins by Alrumayyan, Nora, Slauenwhite, Drew, McAlpine, Sarah M, Roberts, Sarah, Issekutz, Thomas B, Huber, Adam M, Liu, Zaiping, Derfalvi, Beata

“…Prolidase deficiency (PD) is an autosomal recessive inborn multisystemic disease caused by mutations in the PEPD gene encoding the enzyme prolidase D, leading…”
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Joint involvement, disease activity and quality of life in pediatric Crohn's disease - a cross-sectional study by Derfalvi, Beata, Boros, Kriszta Katinka, Szabo, Doloresz, Bozsaki, Gabor, Cseh, Aron, Rudas, Gabor, Muller, Katalin Eszter, Veres, Gabor

“…Few published data describe how joint involvement, the most prevalent extraintestinal manifestation, affects quality of life (QoL) of children with Crohn's…”
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MicroRNA-27a-3p enhances the inflammatory phenotype of Juvenile Idiopathic Arthritis fibroblast-like synoviocytes by Bullock, Claire H, McAlpine, Sarah M, Roberts, Sarah E, Derfalvi, Beata

“…Juvenile Idiopathic Arthritis (JIA) is the most prevalent chronic pediatric rheumatic disorder. In joints of JIA patients, aggressive phenotypic changes in…”
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Physician vaccination practices in mild to moderate inborn errors of immunity and retrospective review of vaccine completeness in IEI: results from the Canadian Immunization Research Network by Suresh, Sneha, Zafack, Joseline, Pham-Huy, Anne, Derfalvi, Beata, Sadarangani, Manish, McConnell, Athena, Tapiéro, Bruce, Halperin, Scott A, De Serres, Gaston, M Pernica, Jeffrey, Top, Karina A

“…Safety and effectiveness concerns may preclude physicians from recommending vaccination in mild/moderate inborn errors of immunity (IEI). This study describes…”
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IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom by Rashid, Mohsin, Issekutz, Thomas, Issekutz, Andrew, Van Limbergen, Johan, Derfalvi, Beata, Al Maawali, Ali, Ghandourah, Hasan

“…IPEX (immune dysregulation-polyendocrinopathy-enteropathy-X-linked) syndrome is a rare, potentially fatal multisystem disorder caused by mutations in the FOXP3…”
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Abstract 2031 Modulation of the cell membrane lipid milieu by peroxisomes triggers inflammatory responses by Di Cara, Francesca, Parsons, Brendon, Makdissi, Stephanie, Mu, Yizhu, Derfalvi, Beata

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Genetic variants of the interleukin-18 promoter region (-607) influence the course of necrotising enterocolitis in very low birth weight neonates by HENINGER, Erika, TRESZL, Andras, KOCSIS, Istvan, DERFALVI, Beata, TULASSAY, Tivadar, VASARHELYI, Barna

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Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity by Malik, Aniko, Stringer, Elizabeth, Warner, Neil, van Limbergen, Johan, Vandersteen, Anthony, Muise, Aleixo, Derfalvi, Beata

“…Our understanding of inflammatory bowel disease is changing as we identify genetic variants associated with immune dysregulation. Inflammatory bowel disease…”
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Interstitial cystitis caused by immune dysregulation in LRBA deficiency: one among the rare urological manifestations in inborn errors of immunity by Brager, Rae, Bakshi, Devyani, Farrell, Keelia, Santos, Joana Dos, Romao, Rodrigo, Upton, Julia, Issekutz, Thomas, Derfalvi, Beata

“…Inborn errors of immunity (IEI) rarely present with associated urological manifestations. Chronic cystitis and urethritis caused by ureaplasma and mycoplasma…”
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Therapeutic options for CTLA-4 insufficiency by Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, Maria-Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns-Martin, Sullivan, Kathleen E., Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae-Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofia, Buchbinder, David, Arkwright, Peter D., Grimbacher, Bodo

“…Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected…”
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Rituximab-induced hypogammaglobulinemia and infection risk in pediatric patients by Labrosse, Roxane, Barmettler, Sara, Derfalvi, Beata, Blincoe, Annaliesse, Cros, Guilhem, Lacombe-Barrios, Jonathan, Barsalou, Julie, Yang, Nancy, Alrumayyan, Nora, Sinclair, Jan, Ong, Mei-Sing, Camargo, Carlos A., Walter, Jolan, Haddad, Elie

“…Rituximab is a B-cell depleting agent used in B-cell malignancies and autoimmune diseases. A subset of adult patients may develop prolonged and symptomatic…”
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82 Newborn Screening for Severe Combined Immune Deficiency: The Canadian Landscape by Mudilage, Mithili, Kalashnikova, Tatiana, Muranyi, Andrew, Biggs, Catherine, Sinclair, Graham, Suresh, Sneha, Martin, Georgina, Antonishyn, Nick, Rubin, Tamar, Evans, Cherie, Kim, Vy, Kernohan, Kristin, Derfalvi, Beata, Wright, Nicola, Pham-Huy, Anne

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68 LRBA dysfunction: a new diagnostic entity caused by biallelic LRBA missense variants results in reduced CTLA-4 expression and autoimmunity by Chiang, Samuel, Murguia-Favela, Luis, Wright, Nicola, Steele, MacGregor, Seroogy, Christine, Blanchard-Rohner, Geraldine, Shrikhande, Anitha, Wilson, Jo, Yang, Li, Owsley, Erika, Hartog, Nicholas, Elizalde, Araceli, Bleesing, Jack, Dimitriades, Victoria, Gutierrez, Maria Jimena, Peng, Xiao, Derfalvi, Beata, Brager, Rae, Jordan, Michael, Marwaha, Ashish

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3 Development of the Canadian Inborn Errors of Immunity National Registry (CIEINR) by Kalashnikova, Tatiana, Mattison, Taylor, Alger, Alyssa, Uppal, Mandi, Grunebaum, Eyal, Suresh, Sneha, Ritchie, Bruce, Cowan, Juthaporn, Rubin, Tamar, Murguia-Favela, Luis, Grossman, Jennifer, Wu, Caren, Chapdelaine, Hugo, Lee, Kevin, Biggs, Catherine, Brager, Rae, Geerlinks, Ashley V., Goulstone, Whitney, Derfalvi, Beata, Wright, Nicola

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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity by Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A.A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan

“…Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new…”
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