Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
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.
Published in Nature communications (22.06.2023)
Published in Nature communications (22.06.2023)
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Journal Article
The Role of Type III Interferons in Human Disease
Malik, Aniko E., Issekutz, Thomas B., Derfalvi, Beata
Published in Clinical and investigative medicine (14.06.2021)
Published in Clinical and investigative medicine (14.06.2021)
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Journal Article
High Dose Intravenous IgG Therapy Modulates Multiple NK Cell and T Cell Functions in Patients With Immune Dysregulation
McAlpine, Sarah M., Roberts, Sarah E., Heath, John J., Käsermann, Fabian, Issekutz, Andrew C., Issekutz, Thomas B., Derfalvi, Beata
Published in Frontiers in immunology (19.05.2021)
Published in Frontiers in immunology (19.05.2021)
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Journal Article
COVID-19 vaccine testing & administration guidance for allergists/immunologists from the Canadian Society of Allergy and Clinical Immunology (CSACI)
Vander Leek, Timothy K, Chan, Edmond S, Connors, Lori, Derfalvi, Beata, Ellis, Anne K, Upton, Julia E M, Abrams, Elissa M
Published in Allergy, asthma, and clinical immunology (15.03.2021)
Published in Allergy, asthma, and clinical immunology (15.03.2021)
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Journal Article
Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins
Alrumayyan, Nora, Slauenwhite, Drew, McAlpine, Sarah M, Roberts, Sarah, Issekutz, Thomas B, Huber, Adam M, Liu, Zaiping, Derfalvi, Beata
Published in Allergy, asthma, and clinical immunology (23.02.2022)
Published in Allergy, asthma, and clinical immunology (23.02.2022)
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Journal Article
Joint involvement, disease activity and quality of life in pediatric Crohn's disease - a cross-sectional study
Derfalvi, Beata, Boros, Kriszta Katinka, Szabo, Doloresz, Bozsaki, Gabor, Cseh, Aron, Rudas, Gabor, Muller, Katalin Eszter, Veres, Gabor
Published in Pediatric Rheumatology (29.01.2022)
Published in Pediatric Rheumatology (29.01.2022)
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Journal Article
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
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
Published in Allergy, asthma, and clinical immunology (09.04.2022)
Published in Allergy, asthma, and clinical immunology (09.04.2022)
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Journal Article
IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom
Rashid, Mohsin, Issekutz, Thomas, Issekutz, Andrew, Van Limbergen, Johan, Derfalvi, Beata, Al Maawali, Ali, Ghandourah, Hasan
Published in Case Reports in Immunology (09.09.2020)
Published in Case Reports in Immunology (09.09.2020)
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Journal Article
Genetic variants of the interleukin-18 promoter region (-607) influence the course of necrotising enterocolitis in very low birth weight neonates
HENINGER, Erika, TRESZL, Andras, KOCSIS, Istvan, DERFALVI, Beata, TULASSAY, Tivadar, VASARHELYI, Barna
Published in European journal of pediatrics (01.07.2002)
Published in European journal of pediatrics (01.07.2002)
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Journal Article
Interstitial cystitis caused by immune dysregulation in LRBA deficiency: one among the rare urological manifestations in inborn errors of immunity
Brager, Rae, Bakshi, Devyani, Farrell, Keelia, Santos, Joana Dos, Romao, Rodrigo, Upton, Julia, Issekutz, Thomas, Derfalvi, Beata
Published in Clinical immunology (Orlando, Fla.) (01.05.2023)
Published in Clinical immunology (Orlando, Fla.) (01.05.2023)
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Journal Article
Therapeutic options for CTLA-4 insufficiency
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
Published in Journal of allergy and clinical immunology (01.02.2022)
Published in Journal of allergy and clinical immunology (01.02.2022)
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Web Resource
Rituximab-induced hypogammaglobulinemia and infection risk in pediatric patients
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
Published in Journal of allergy and clinical immunology (01.08.2021)
Published in Journal of allergy and clinical immunology (01.08.2021)
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Journal Article
82 Newborn Screening for Severe Combined Immune Deficiency: The Canadian Landscape
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
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
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Journal Article
3 Development of the Canadian Inborn Errors of Immunity National Registry (CIEINR)
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
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
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Journal Article
68 LRBA dysfunction: a new diagnostic entity caused by biallelic LRBA missense variants results in reduced CTLA-4 expression and autoimmunity
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
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
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Journal Article
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
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
Published in Journal of allergy and clinical immunology (01.01.2022)
Published in Journal of allergy and clinical immunology (01.01.2022)
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