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Author Details

Markus G Seidel
Medical University of Graz
1998
106
35
PMIDPaper TitleJournal TitlePublished Year
37584291Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.Haematologica2024
36317675Concurrence of a kinase-dead BRAF and an oncogenic KRAS gain-of-function mutation in juvenile xanthogranuloma.Pediatr Blood Cancer2023
34111452Therapeutic options for CTLA-4 insufficiency.J Allergy Clin Immunol2022
35441401Immunological recovery following HLA-matched CD3+ TCR αÿ+/CD19+ depleted hematopoietic stem cell transplantation in children.Pediatr Transplant2022
36046479Clinical implementation of plasma cell-free circulating tumor DNA quantification by digital droplet PCR for the monitoring of Ewing sarcoma in children and adolescents.Front Pediatr2022
36113303Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation.J Autoimmun2022
35974385Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.J Hematol Oncol2022
34920033Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.J Allergy Clin Immunol2022
35138502Correction to: The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.J Clin Immunol2022
34797428The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.J Clin Immunol2022
33991581Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.J Allergy Clin Immunol2022
33022377Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell Deficiencies.Transplant Cell Ther2021
33710335Misdiagnosed thrombocytopenia in children and adolescents: analysis of the Pediatric and Adult Registry on Chronic ITP.Blood Adv2021
34477998Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.J Clin Immunol2021
33996698Different Apples, Same Tree: Visualizing Current Biological and Clinical Insights into CTLA-4 Insufficiency and LRBA and DEF6 Deficiencies.Front Pediatr2021
33170215A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS.J Exp Med2021
33082212Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome.Clin Cancer Res2021
33264411The Human Phenotype Ontology in 2021.Nucleic Acids Res2021
31410599Invasive mucormycosis during treatment for acute lymphoblastic leukaemia-successful management of two life-threatening diseases.Support Care Cancer2020
31704777Novel phenotypes observed in patients with <i>ETV6</i>-linked leukaemia/familial thrombocytopenia syndrome and a biallelic <i>ARID5B</i> risk allele as leukaemogenic cofactor.J Med Genet2020
31874182Treatment with rapamycin can restore regulatory T-cell function in IPEX patients.J Allergy Clin Immunol2020
31887391Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.J Allergy Clin Immunol2020
33275670Treatment of immune-mediated cytopenias in patients with primary immunodeficiencies and immune regulatory disorders (PIRDs).Hematology Am Soc Hematol Educ Program2020
32618429Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning.Pediatr Blood Cancer2020
32153572Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.Front Immunol2020
32389282Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.J Allergy Clin Immunol Pract2020
30631990Successful Treatment with SCIG of a Child with Refractory Chronic ITP.J Clin Immunol2019
31799221Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders.Front Pediatr2019
31417559Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency.Front Immunol2019
30776527The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.J Allergy Clin Immunol Pract2019
30740824A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.Hum Mutat2019
28669558Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders.J Allergy Clin Immunol2018
30124581The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies.Curr Opin Pediatr2018
30013564No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.Front Immunol2018
30631328The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System.Front Immunol2018
30450104The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.Front Immunol2018
30619276Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.Front Immunol2018
28502825Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.J Allergy Clin Immunol2018
29411124Malignancy and chemotherapy induced haemophagocytic lymphohistiocytosis in children and adolescents-a single centre experience of 20 years.Ann Hematol2018
29241729Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.J Allergy Clin Immunol2018
27658761A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.J Allergy Clin Immunol2017
28371197A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.Pediatr Blood Cancer2017
28729238Baby genome screening: paving the way to genetic discrimination?BMJ2017
28598581Life-threatening sinusoidal obstruction syndrome after high-dose chemotherapy linked to compound heterozygous mutations in ABCB11.Pediatr Blood Cancer2017
28903942WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly.Blood2017
28802089Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy.Pediatr Blood Cancer2017
28550182Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.Haematologica2017
27789675Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.Haematologica2017
27099148The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis.Blood2016
26661331Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?J Clin Immunol2016
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Collaborators

Department of Pediatrics at the Dr. von Hauner Children's Hospital
Co-authored papers 11
Great Ormond Street Hospital for Children NHS Foundation Trust
Co-authored papers 6
AUVA Trauma Hospital Salzburg
Co-authored papers 5
St. Anna Children's Cancer Research Institute (CCRI)
Co-authored papers 4
Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg
Co-authored papers 4
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
Co-authored papers 3
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
University Hospital Carl Gustav Carus, Technische Universitat Dresden
Co-authored papers 3
Dana-Farber Cancer Institute
Co-authored papers 3
St. Anna Children's Hospital, Medical University of Vienna
Co-authored papers 3
Co-authored papers 3
NIHR Great Ormond Street Hospital BRC
Co-authored papers 3
Co-authored papers 3
Co-authored papers 2
Co-authored papers 2
University of Cambridge
Co-authored papers 2
Co-authored papers 2
Diagnostic and Research Institute of Pathology, Medical University of Graz
Co-authored papers 2
Duke University
Co-authored papers 2
Hematology and Clinical Immunology, Heinrich Heine University Dusseldorf
Co-authored papers 2
Co-authored papers 2
Medical University of Graz
Co-authored papers 2
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 1
Children's Hospital of Philadelphia
Co-authored papers 1
Dr. von Hauner Children's Hospital
Co-authored papers 1
St. Vincent's University Hospital
Co-authored papers 1
Hopp Children's Cancer Center Heidelberg (KiTZ)
Co-authored papers 1
Curtin University
Co-authored papers 1
University of Luxembourg
Co-authored papers 1
Hannover Medical School
Co-authored papers 1