Not finding it? Sign in to also search OpenAlex live.
-
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes2022 Journal of Clinical Immunology article 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
7citations -
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, +23 more
3citations -
Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years2025 Frontiers in Immunology review Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lúcia Mamede, Roser Cantenys Sabà, Samya Van Coillie, Johan Prevot, Silvia Sánchez‐Ramón, M. 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, +30 more
2citations -
Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening2025 Journal of Human Immunity review 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 -
Natural history of clinical manifestations in activated phosphoinositide 3-kinase δ syndrome (APDS): Time-to-event analyses using the European Society for Immunodeficiencies-APDS registry2026 Archive ouverte UNIGE (University of Geneva) 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, +5 more
0citations -
Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults2020 Blood article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Robert Chiesa, Junfeng Wang, Henric-Jan Blok, Sheree Hazelaar, Bénédicte Neven, Despina Moshous, +34 more
168citations -
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome2021 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access cited by 2 patents
Dimana Dimitrova, Zohreh Nademi, Maria Elena Maccari, Stephan R. Ehl, Gülbû Uzel, Takahiro Tomoda, +48 more
74citations -
Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands2020 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maartje Blom, Robbert G. M. Bredius, Marleen Elizabeth Jansen, Gert Weijman, Evelien A. Kemper, Clementien L. Vermont, +13 more
51citations -
Newborn screening for SCID and severe T lymphocytopenia in Europe2024 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maartje Blom, Maarja Soomann, Pere Soler‐Palacín, Anna Šedivá, Asbjørg Stray‐Pedersen, Rolf H Zetterström, +3 more
40citations -
Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III.2021 PubMed article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Amos Toren, Gal Goldstein, Despina Moshous, Franco Locatelli, Marianne Ifversen, Olga Aleinikova, +6 more
38citations -
Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency2020 Clinical & Translational Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Christina Großerichter-Wagener, Alexander Franco‐Gallego, Fatemeh Ahmadi, Marcela Moncada‐Vélez, Virgil A. S. H. Dalm, Jessica Lineth Rojas, +12 more
22citations -
AKT Hyperphosphorylation and T Cell Exhaustion in Down Syndrome2022 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Daphne Peeters, Ingrid Pico‐Knijnenburg, Douwe Wieringa, Mandana Rad, Roos Cuperus, Madelon Ruige, +4 more
17citations -
A large single‐center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey2023 Scandinavian Journal of Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Hilal Ünsal, Canan Caka, Hacer Neslihan Bildik, Saliha Esenboğa, Alphan Küpesiz, Barış Kuşkonmaz, +4 more
7citations -
Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): an externally controlled study2024 Clinical & Experimental Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Anita Chandra, Sven Kracker, Stephan R. Ehl, Markus G. Seidel, Ioana Gulas, Louis Dron, +4 more
7citations -
A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)2024 Orphanet Journal of Rare Diseases article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Ian Hitchcock, Hanna Skrobanski, Elina Matter, Ewen Munro, Joanne Tutein Nolthenius, Alex Crocker-Buque, +4 more
7citations -
Protein functionality as a potential bottleneck for somatic revertant variants2020 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Fabian M. P. Kaiser, İsmail Reisli, Ingrid Pico‐Knijnenburg, Anton W. Langerak, François G. Kavelaars, Hasibe Artaç, +2 more
6citations -
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 -
Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism2026 Bone Marrow Transplantation review 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 -
Outcome of second conditioned allogeneic stem cell transplant in children with non-SCID inborn errors of immunity2026 Blood Advances article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Zohreh Nademi, Su Han Lum, Patrick Gilbert, Tiarlan Sirait, Musa Karakükçü, Franco Locatelli, +31 more
1citations -
Prenatal molecular diagnosis and allogeneic hematopoietic stem cell transplantation in an infant with RAG2 deficiency2026 JOURNAL OF BONE MARROW TRANSPLANTATION AND CELLULAR THERAPY article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maria Laura Herrera Andino, Milagros López Orozco, María Victoria Suen, Carlos Hollman, Lucía Spossito, Arjan C. Lankester, +2 more
0citations -
Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Annelotte J. Duintjer, Maartje Blom, Robbert G. M. Bredius, Ingrid Pico‐Knijnenburg, Adinda Heuperman, Hennie M. Hodemaekers, +13 more
0citations