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Immunodeficiency and Autoimmune Disorders Sign in to save
Papers per year
Papers 160
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Inborn errors of immunity with kidney and urinary tract disorders: a review2024 International Urology and Nephrology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Ahmad Shajari, Atefe Zare Ahmadabadi, Mohammad Moein Ashrafi, Tolue Mahdavi, Mahbubeh Mirzaee, Masoumeh Mohkam, +3 more
5citations -
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 -
Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program2026 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lea Graafen, Carsten Speckmann, Shahrzad Bakhtiar, Horst von Bernuth, Kai Lehmberg, Peter Bader, +27 more
4citations -
T, B, and NK cells versus the primary immunodeficiency orientation tube for diagnostic screening of IEIs2025 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Martín Pérez‐Andrés, Mirjam van der Burg, Tomáš Kalina, Carolien Bonroy, Susana Silva, Eduardo López‐Granados, +9 more
4citations -
Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT2023 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Thomas J. Weitering, Michèl A.A.P. Willemsen, Alexander Malcolm R. Taylor, Corry M.R. Weemaes, Mirjam van der Burg, Dagmar Berghuis
4citations -
Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome2023 BMC Surgery article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Seyed Alireza Mahdaviani, Soodeh Ghadimi, Mazdak Fallahi, Seyedeh Atefeh Hashemimoghaddam, Zahra Chavoshzadeh, Anne Puel, +7 more
4citations -
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study2023 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lucía del Pino Molina, Yolanda Soto Serrano, Keren Reche Yebra, J. Marty Lobo, B. González Martínez, María Bravo García‐Morato, +3 more
4citations -
Five Patients With Two Novel Homozygous Variants in CD3 Subunits and Comprehensive Review of the Literature2025 The Journal of Allergy and Clinical Immunology In Practice article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders
Gamze Sönmez, Alp Kazancıoğlu, Yiğit Yazarkan, Ateş Kutay Tenekeci, İsmail Yaz, Saliha Esenboğa, +5 more
4citations -
Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II2022 Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maurits Damoiseaux, Jan G.M.C. Damoiseaux, Ingrid Pico‐Knijnenburg, Mirjam van der Burg, Robbert Bredius, Gijs van Well
4citations -
A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA2022 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders
Sanami Takada, Ingrid Pico‐Knijnenburg, Małgorzata Pac, Adilia Warris, Mirjam van der Burg
4citations -
Managing non-SCID T cell lymphopenia after TREC-based newborn screening2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Annelotte J. Duintjer, Robbert G. M. Bredius, J. Merlijn van den Berg, Lisette van de Corput, Willem A. Dik, Marielle E van Gijn, +13 more
3citations -
Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress2024 International Journal of Neonatal Screening article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Leire Solís, Samya Van Coillie, James R. Bonham, Fabian H. Hauck, Lennart L G Hammarström, Frank J. T. Staal, +3 more
3citations -
Natural history of clinical manifestations in activated phosphoinositide 3-kinase δ syndrome (APDS): Time-to-event analyses using the European Society for Immunodeficiencies-APDS registry2025 Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maria Elena Maccari, Sven Kracker, Anita Chandra, Stephan R. Ehl, Markus G. Seidel, Joanne Tutein Nolthenius, +9 more
3citations -
Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism2026 Bone Marrow Transplantation article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
M.H. Albert, Arjan C. Lankester, Robert Wynn, A. R. Gennery, Manfred Hoenig, Alexandra Y. Kreins, +5 more
3citations -
Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Sujal Ghosh, Y Wang, Christoph Schultheiß, Arndt Borkhardt, Angélique Sanchez Dafun, Liisa Knipp, +19 more
2citations -
Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening2025 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Thomas J. Weitering, Dagmar Berghuis, Maartje Blom, Michèl A.A.P. Willemsen, Mirjam van der Burg
2citations -
Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years2025 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lúcia Mamede, Roser Cantenys Sabà, Samya Van Coillie, Johan Prevot, Silvia Sánchez‐Ramón, Cecilia Poli, +16 more
2citations -
Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study2025 Blood article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
U. Herrmann, Matthias Felber, Austen J. J. Worth, Zehra Şule Haskoloğlu, Figen Doğu, Victor Anthony Lewis, +29 more
2citations
Most active Aachen authors
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Mirjam van der Burg 14,001 citations overall52 papers
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Arjan C. Lankester 16,396 citations overall30 papers
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Robbert G. M. Bredius 10,615 citations overall18 papers
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Maartje Blom 514 citations overall16 papers
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Ingrid Pico‐Knijnenburg 761 citations overall14 papers
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Dagmar Berghuis 1,116 citations overall12 papers
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Jacques J. M. van Dongen 55,067 citations overall11 papers
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Joanne Tutein Nolthenius 23 citations overall7 papers
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Stuart E. Turvey 29,675 citations overall6 papers
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Tim Niehues 12,026 citations overall6 papers
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Annelotte J. Duintjer 70 citations overall5 papers
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Frank J. T. Staal 18,191 citations overall4 papers
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Emilie P. Buddingh 2,387 citations overall4 papers
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Su Han Lum 1,677 citations overall4 papers
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Monique M. van Ostaijen-ten Dam 1,663 citations overall4 papers