Inborn errors of immunity (primary immunodeficiencies)

Authors: Vy H. D. Kim, Julia E. M. Upton, Beata Derfalvi, Kyla J. Hildebrand, Christine McCusker

Source: Allergy, Asthma & Clinical Immunology, Vol 20, Iss S3, Pp 1-17 (2025)

Subject Terms: Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/1710-1492

Access URL: https://doaj.org/article/c7da4fd77aaf4ce5ae2a3b92aade5d22

Humoral and cell-mediated immune responses to COVID-19 vaccines up to 6 months post three-dose primary series in adults with inborn errors of immunity and their breakthrough infections

Authors: Dana Unninayar, Emilia L. Falcone, Hugo Chapdelaine, Donald C. Vinh, Karina A. Top, Beata Derfalvi, Thomas B. Issekutz, Hélène Decaluwe, Anne Pham-Huy, Julia Upton, Stephen D. Betschel, Tamar Rubin, Sneha Suresh, Nicola A. M. Wright, Luis Murguía-Favela, Tatiana Kalashnikova, Lisa Barrett, Sharon Oldford, Marc-Andre Langlois, Corey Arnold, Manish Sadarangani, Tinghua Zhang, Tim Ramsay, Dina Yazji, Juthaporn Cowan

Source: Frontiers in Immunology, Vol 15 (2025)

Subject Terms: COVID-19, vaccine response, inborn error of immunity, humoral immunity, cellular mediated immunity, immunogenicity, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1501908/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/e6198542dd7346009d446b888341ad3e

MicroRNA-27a-3p enhances the inflammatory phenotype of Juvenile Idiopathic Arthritis fibroblast-like synoviocytes

Authors: Claire H. Bullock, Sarah M. McAlpine, Sarah E. Roberts, Beata Derfalvi

Source: Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-12 (2023)

Subject Terms: Fibroblast-like synoviocytes, Inflammation, Juvenile idiopathic arthritis, microRNA, Synovial fluid, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/1546-0096

Access URL: https://doaj.org/article/f0f8b3a5436f42c5be5a32a6c623de2d

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

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

Source: Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/70df5eaacfeb4302a635c2f9e2561b5d

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

Authors: Sneha Suresh, Joseline Zafack, Anne Pham-Huy, Beata Derfalvi, Manish Sadarangani, Athena McConnell, Bruce Tapiéro, Scott A. Halperin, Gaston De Serres, Jeffrey M Pernica, Karina A. Top

Source: Allergy, Asthma & Clinical Immunology, Vol 18, Iss 1, Pp 1-13 (2022)

Subject Terms: B cell deficiency, Combined immunodeficiency, Immunization, Primary antibody deficiency, Vaccination, Vaccine coverage, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/1710-1492

Access URL: https://doaj.org/article/50ff2c49bc5f44beb697dc7185e05158

Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins

Authors: Nora Alrumayyan, Drew Slauenwhite, Sarah M. McAlpine, Sarah Roberts, Thomas B. Issekutz, Adam M. Huber, Zaiping Liu, Beata Derfalvi

Source: Allergy, Asthma & Clinical Immunology, Vol 18, Iss 1, Pp 1-11 (2022)

Subject Terms: Prolidase deficiency, T cells, Inborn error of immunity, Autoimmunity, Leg ulcers, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/1710-1492

Access URL: https://doaj.org/article/03ad05a01adb459c9c83d1949a6d70a8

Joint involvement, disease activity and quality of life in pediatric Crohn’s disease – a cross-sectional study

Authors: Beata Derfalvi, Kriszta Katinka Boros, Doloresz Szabo, Gabor Bozsaki, Aron Cseh, Gabor Rudas, Katalin Eszter Muller, Gabor Veres

Source: Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-9 (2022)

Subject Terms: Pediatric Crohn’s disease, Joint involvement, Quality of life, Arthritis, Arthralgia, Pediatric Crohn’s disease activity index, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/1546-0096

Access URL: https://doaj.org/article/2766567a6ef147d09213ac78aba0b386

COVID-19 vaccine testing & administration guidance for allergists/immunologists from the Canadian Society of Allergy and Clinical Immunology (CSACI)

Authors: Timothy K. Vander Leek, Edmond S. Chan, Lori Connors, Beata Derfalvi, Anne K. Ellis, Julia E. M. Upton, Elissa M. Abrams

Source: Allergy, Asthma & Clinical Immunology, Vol 17, Iss 1, Pp 1-6 (2021)

Subject Terms: COVID-19, Vaccine, PEG, Allergy, Anaphylaxis, Immunocompromise, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/1710-1492

Access URL: https://doaj.org/article/68a2c3a5a1534b14b9544d87ad32208a

High Dose Intravenous IgG Therapy Modulates Multiple NK Cell and T Cell Functions in Patients With Immune Dysregulation

Authors: Sarah M. McAlpine, Sarah E. Roberts, John J. Heath, Fabian Käsermann, Andrew C. Issekutz, Thomas B. Issekutz, Beata Derfalvi

Source: Frontiers in Immunology, Vol 12 (2021)

Subject Terms: IVIG, NK cell, immune dysregulation, Kawasaki disease, autoimmune disease, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.660506/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/ea9f95a0079b4145a5cc45eefede390a

Highly efficient serum-free manipulation of miRNA in human NK cells without loss of viability or phenotypic alterations is accomplished with TransIT-TKO.

Authors: Breanna K V Hargreaves, Sarah E Roberts, Beata Derfalvi, Jeanette E Boudreau

Source: PLoS ONE, Vol 15, Iss 4, p e0231664 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/383263259d494ef4b3dc4013270ba0f9

IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom

Authors: Ali Al Maawali, Beata Derfalvi, Johan Van Limbergen, Andrew Issekutz, Thomas Issekutz, Hasan Ghandourah, Mohsin Rashid

Source: Case Reports in Immunology, Vol 2020 (2020)

Subject Terms: Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/2090-6609; https://doaj.org/toc/2090-6617

Access URL: https://doaj.org/article/4349c271a3c74986931970e3ef6fab45

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

Authors: Zeinab A. El-Sayed, Irina Abramova, Juan Carlos Aldave, Waleed Al-Herz, Liliana Bezrodnik, Rachida Boukari, Ahmed Aziz Bousfiha, Caterina Cancrini, Antonio Condino-Neto, Ghassan Dbaibo, Beata Derfalvi, Figen Dogu, J.David M. Edgar, Brian Eley, Rasha Hasan El-Owaidy, Sara Elva Espinosa-Padilla, Nermeen Galal, Filomeen Haerynck, Rima Hanna-Wakim, Elham Hossny, Aydan Ikinciogullari, Ebtihal Kamal, Hirokazu Kanegane, Nadia Kechout, Yu Lung Lau, Tomohiro Morio, Viviana Moschese, Joao Farela Neves, Monia Ouederni, Roberto Paganelli, Kenneth Paris, Claudio Pignata, Alessandro Plebani, Farah Naz Qamar, Sonia Qureshi, Nita Radhakrishnan, Nima Rezaei, Nelson Rosario, John Routes, Berta Sanchez, Anna Sediva, Mikko RJ. Seppanen, Edith Gonzalez Serrano, Anna Shcherbina, Surjit Singh, Sangeetha Siniah, Guiseppe Spadaro, Mimi Tang, Ana Maria Vinet, Alla Volokha, Kathleen E. Sullivan

Source: World Allergy Organization Journal, Vol 12, Iss 3, Pp - (2019)

Subject Terms: Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1939455119301061; https://doaj.org/toc/1939-4551

Access URL: https://doaj.org/article/d23e5f6968aa40978ac5717fbf7ea804

Differential type I and type III interferon expression profiles in rheumatoid and juvenile idiopathic arthritis

Authors: Anikó E. Malik, Drew Slauenwhite, Sarah M. McAlpine, John G. Hanly, Jean S. Marshall, Beáta Dérfalvi, Thomas B. Issekutz

Source: Frontiers in Medicine, Vol 11 (2024)

Subject Terms: rheumatoid arthritis, juvenile idiopathic arthritis, interferon, dendritic cell, synovial fluid, cytokine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1466397/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/6604fe21c02a4a40848cb6c541f0e5ce

Improved flow cytometric assessment reveals distinct microvesicle (cell-derived microparticle) signatures in joint diseases.

Authors: Bence György, Tamás G Szabó, Lilla Turiák, Matthew Wright, Petra Herczeg, Zsigmond Lédeczi, Agnes Kittel, Anna Polgár, Kálmán Tóth, Beáta Dérfalvi, Gergő Zelenák, István Böröcz, Bob Carr, György Nagy, Károly Vékey, Steffen Gay, András Falus, Edit I Buzás

Source: PLoS ONE, Vol 7, Iss 11, p e49726 (2012)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3502255?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/21230d8ecb8440a199a5c48c7917810d