# | Title | Journal | Year | Citations |
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1 | Hyperzincaemia and hypercalprotectinaemia: a new disorder of zinc metabolism | Lancet, The | 2002 | 112 |
2 | Thymus transplantation for complete DiGeorge syndrome: European experience | Journal of Allergy and Clinical Immunology | 2017 | 108 |
3 | Alternative end joining during switch recombination in patients with Ataxia-Telangiectasia | European Journal of Immunology | 2002 | 106 |
4 | Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders | Journal of Allergy and Clinical Immunology | 2018 | 79 |
5 | Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective Analysis | Journal of Clinical Immunology | 2015 | 73 |
6 | Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation | Journal of Allergy and Clinical Immunology | 2014 | 71 |
7 | Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes | Journal of Allergy and Clinical Immunology | 2014 | 71 |
8 | Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome | Clinical Immunology | 2011 | 49 |
9 | Chronic granulomatous disease caused by mutations other than the common GT deletion inNCF1, the gene encoding the p47phoxcomponent of the phagocyte NADPH oxidase | Human Mutation | 2006 | 48 |
10 | Pharmacokinetics of total immunoglobulin G and immunoglobulin G subclasses in patients undergoing replacement therapy for primary immunodeficiency syndromes | Vox Sanguinis | 2003 | 39 |
11 | A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report | Frontiers in Immunology | 2020 | 31 |
12 | Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON | European Journal of Human Genetics | 2022 | 19 |
13 | EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children | Frontiers in Immunology | 2020 | 17 |
14 | Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review | Expert Review of Clinical Immunology | 2021 | 17 |
15 | The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries | Frontiers in Immunology | 2020 | 16 |
16 | INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry | Journal of Allergy and Clinical Immunology: in Practice | 2021 | 16 |
17 | Treosulfan-based conditioning regimen in a second matched unrelated peripheral blood stem cell transplantation for a pediatric patient with CGD and invasive aspergillosis, who experienced initial graft failure after RIC | International Journal of Hematology | 2009 | 14 |
18 | Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings | Frontiers in Immunology | 2017 | 14 |
19 | Hematopoietic Stem Cell Transplantation for DNA Double Strand Breakage Repair Disorders | Frontiers in Pediatrics | 2019 | 14 |
20 | A multi-centre study of efficacy and safety of Intratect®, a novel intravenous immunoglobulin preparation | Clinical and Experimental Immunology | 2010 | 13 |
21 | Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome | Clinical Cancer Research | 2021 | 13 |
22 | Interstitial Lung Disease in Children With Selected Primary Immunodeficiency Disorders—A Multicenter Observational Study | Frontiers in Immunology | 2020 | 11 |
23 | Pulmonary Lymphomatoid Granulomatosis in Griscelli Syndrome Type 2 | Viral Immunology | 2011 | 10 |
24 | An open, prospective trial investigating the pharmacokinetics and safety, and the tolerability of escalating infusion rates of a 10% human normal immunoglobulin for intravenous infusion (IVIg), BT090, in patients with primary immunodeficiency disease | Vox Sanguinis | 2015 | 9 |
25 | Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance | Allergologia Et Immunopathologia | 2022 | 4 |
26 | Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome persisting to adulthood – an example of a diagnostic and therapeutic challenge | Reumatologia | 2019 | 3 |
27 | Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians | Journal of Clinical Medicine | 2021 | 3 |
28 | BCG Moreau Polish Substrain Infections in Patients With Inborn Errors of Immunity: 40 Years of Experience in the Department of Immunology, Children's Memorial Health Institute, Warsaw | Frontiers in Pediatrics | 2022 | 3 |
29 | T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway | Frontiers in Immunology | 2020 | 2 |
30 | Alternative end joining during switch recombination in patients with Ataxia-Telangiectasia | | 2002 | 2 |
31 | A Multi‑Center, Open‑Label, Single‑Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency | Journal of Clinical Immunology | 2022 | 2 |
32 | Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies | Journal of Clinical Immunology | 2023 | 2 |
33 | Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation | Frontiers in Immunology | 0 | 1 |
34 | Influence of serotonin and selective 5-HT2 and 5-HT3 receptor agonists on the haemodynamics of the isolated, constant pressure perfused rat heart | Inflammation Research | 2005 | 0 |
35 | Bone marrow aplasia following donor lymphocyte infusion in 4-year-old patient with chronic granulomatous disease after allogeneic stem cell transplantation: case report | Central-European Journal of Immunology | 2020 | 0 |
36 | National experience with adenosine deaminase deficiency related SCID in Polish children | Frontiers in Immunology | 0 | 0 |