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The Euroflow PID Orientation Tube in the diagnostic workup of primary immunodeficiency: Daily practice performance in a tertiary university hospital2022 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Jana Neirinck, Annelies Emmaneel, Malicorne Buysse, Jan Philippé, Sofie Van Gassen, Yvan Saeys, +11 more
15citations -
Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review2020 Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Kim Elsink, Joris M. van Montfrans, Marielle E van Gijn, Maartje Blom, P. Martin van Hagen, Taco Willem Kuijpers, +1 more
72citations -
B-cell immunodeficiency associated with polynucleotide kinase 3′-phosphatase (PNKP) deficiency2025 Journal of Allergy and Clinical Immunology Global article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Sanami Takada, Tsubasa Okano, Kay Tanita, Kaima Tsukada, Masato Watanabe, Atsushi Hijikata, +14 more
0citations -
Improved Standardization of Flow Cytometry Diagnostic Screening of Primary Immunodeficiency by Software-Based Automated Gating2020 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Eleni A. Linskens, Annieck M. Diks, Jana Neirinck, Martín Pérez‐Andrés, Emilie De Maertelaere, Magdalena A. Berkowska, +7 more
21citations -
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency—Centromeric Instability—Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study2024 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Dagmar Berghuis, Lubna Shafiq Mehyar, Rolla Abu‐Arja, Michael H. Albert, Jessie L. Barnum, Horst von Bernuth, +11 more
8citations -
Immunologic biomarkers of noninfectious complications and overall survival in common variable immunodeficiency2025 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Alba Torres‐Valle, Jana Neirinck, Susana L. Silva, Sonia de Arriba, Lourdes Cordón, Pedro Pablo Arenas-Caro, +33 more
7citations -
Patients with Chromosome 11q-abberations are Characterized by a Combined Primary Immunodeficiency Involving Both B- and T-lymphocytes2021 Research Square preprint Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Elise J. Huisman, A. Rick Brooimans, Samone Mayer, Marieke Joosten, Louis J Bont, Elisabeth L. M. Rammeloo, +6 more
0citations -
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort2020 Pediatric Neurology article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Mark R. Garrelfs, Sanami Takada, Erik‐Jan Kamsteeg, Sjoert Pegge, Grazia M. S. Mancini, Marc Engelen, +6 more
15citations -
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations2023 Frontiers in Immunology article Biochemistry, Genetics and Molecular Biology Virus-based gene therapy research Open access cited by 1 patent
Maria Carmina Castiello, Martina Di Verniere, Elena Fontana, Sara Penna, Lucia Piceni Sereni, Alessandra Zecchillo, +12 more
4citations -
Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort2021 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Arjan C. Lankester, Bénédicte Neven, Nizar Mahlaoui, Erik G. J. von Asmuth, Virginie Courteille, Mikael Alligon, +52 more
106citations -
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency2021 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maartje Blom, Rolf H Zetterström, Asbjørg Stray‐Pedersen, Kimberly C Gilmour, Andrew Richard Gennery, Jennifer M. Puck, +1 more
38citations -
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency2020 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Narissara Suratannon, Rogier T. A. van Wijck, Linda Broer, Laixi Xue, Joyce B. J. van Meurs, Barbara H. Barendregt, +14 more
37citations -
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency2021 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access cited by 2 patents
Maartje Blom, Ingrid Pico‐Knijnenburg, Sandra Imholz, Lotte T. W. Vissers, Janika Schulze, Jeannette Werner, +2 more
25citations -
Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools2021 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lucía del Pino Molina, Eduardo López‐Granados, Quentin Lécrevisse, Juan Manuel Torres, Martín Pérez‐Andrés, Elena Blanco, +11 more
21citations -
Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model2021 Brain Behavior & Immunity - Health article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Ines Serra, Olivia R. Manusama, Fabian M. P. Kaiser, Izi Izumi Floriano, Lucas F Wahl, Christian van der Zalm, +8 more
14citations -
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)2020 Immunological Investigations article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders
Elham Rayzan, Amir M. Rahmani, Sepideh Shahkarami, Samaneh Zoghi, Arezou Rezaei, Zahra Aryan, +16 more
12citations -
Deciphering imprints of impaired memory B-cell maturation in germinal centers of three patients with common variable immunodeficiency2022 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Pauline A. van Schouwenburg, Susanne Unger, Kathryn J. Payne, Fabian M. P. Kaiser, Ingrid Pico‐Knijnenburg, Jens Pfeiffer, +8 more
11citations -
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation2022 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Nel Dąbrowska-Leonik, Agata Karolina Pastorczak, Katarzyna Bąbol‐Pokora, Katarzyna Bernat-Sitarz, Barbara Piątosa, Edyta Heropolitańska–Pliszka, +6 more
11citations -
Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data2021 International Journal of Neonatal Screening article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
M. Elske van den Akker‐van Marle, Maartje Blom, Mirjam van der Burg, Robbert G. M. Bredius, Catharina P B van der Ploeg
10citations -
Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Ines Serra, Olivia R. Manusama, Fabian M. P. Kaiser, Izi Izumi Floriano, Lucas F Wahl, Christian van der Zalm, +8 more
5citations -
FOXN1 immunodeficiency detected by TREC-based newborn screening - A challenge of management?2026 Immunology Letters article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lea Graafen, Arndt Borkhardt, Julian Reiß, Stavrieta Soura, Hans‐Jürgen Laws, Markus Uhrberg, +5 more
1citations -
Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency2020 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders
Su Han Lum, Reem Elfeky, Federica Achini, Adriana Margarit-Soler, Bianca Laura Cinicola, Íñigo Pérez‐Heras, +16 more
10citations