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Author Details

Fabian Hauck
Department of Pediatrics at the Dr. von Hauner Children's Hospital
2008
92
28
PMIDPaper TitleJournal TitlePublished Year
37935260JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.J Allergy Clin Immunol2024
36223592Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.Blood2023
37620741Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers.J Clin Immunol2023
37454339An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.J Clin Immunol2023
37084016The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation.J Clin Immunol2023
37098531Transition for adolescents with a rare disease: results of a nationwide German project.Orphanet J Rare Dis2023
36880831Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.J Exp Med2023
36515678Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.J Exp Med2023
36912165DNA sensing via the cGAS/STING pathway activates the immunoproteasome and adaptive T-cell immunity.EMBO J2023
36843153Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).J Clin Immunol2023
35973195sCD25 as an independent adverse prognostic factor in adult patients with HLH: results of a multicenter retrospective study.Blood Adv2023
36326697Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.J Exp Med2023
34111452Therapeutic options for CTLA-4 insufficiency.J Allergy Clin Immunol2022
35364342Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.J Allergy Clin Immunol Pract2022
33634762Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.Endocr Metab Immune Disord Drug Targets2022
35100336Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.Blood2022
35182547Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.J Allergy Clin Immunol2022
35273242Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.Sci Rep2022
35138502Correction to: The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.J Clin Immunol2022
35333544Gain-of-function <i>IKZF1</i> variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.Sci Immunol2022
34647697Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long-term bridging to hematopoietic stem cell transplantation.Pediatr Pulmonol2022
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
33641045Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.J Clin Immunol2021
35003119Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity.Front Immunol2021
35049682The Neurokinin-1 Receptor Is a Target in Pediatric Rhabdoid Tumors.Curr Oncol2021
34772435An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee.Orphanet J Rare Dis2021
34477998Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.J Clin Immunol2021
34386911NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.J Clin Immunol2021
33967276Salvage HLA-haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for graft failure in non-malignant disorders.Bone Marrow Transplant2021
34183371Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.J Immunol2021
34145065Heterozygous <i>OAS1</i> gain-of-function variants cause an autoinflammatory immunodeficiency.Sci Immunol2021
34116213Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency.Clin Immunol2021
34080085Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.J Clin Immunol2021
33118209Outcome of chronic granulomatous disease - Conventional treatment vs stem cell transplantation.Pediatr Allergy Immunol2021
33280233Flow cytometric measurement of STAT5 phosphorylation in cytomegalovirus-stimulated T cells.Cytometry A2021
33188394SARS-CoV-2 Triggering Severe Acute Respiratory Distress Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in a 3-Year-Old Child With Down Syndrome.J Pediatric Infect Dis Soc2021
33264411The Human Phenotype Ontology in 2021.Nucleic Acids Res2021
33122583Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.J Pediatr Hematol Oncol2021
32458183Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie.J Clin Immunol2020
31965418T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.J Clin Immunol2020
31761904Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.Genet Med2020
32603902A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like Hyperinflammation.J Allergy Clin Immunol Pract2020
32730583EBV-triggered hemophagocytic lymphohistiocytosis in a boy with a history of non-Hodgkin lymphoma.Blood2020
32845010Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.Eur J Immunol2020
32614953Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults.Blood2020
32384542Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis.Blood Adv2020
32497488Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.Am J Hum Genet2020
30391550Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.J Allergy Clin Immunol Pract2019
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Collaborators

Christoph Klein
Kinderklinik und Kinderpoliklinik der Ludwig-Maximilians-Universitat Munchen
Co-authored papers 36
Markus G Seidel
Medical University of Graz
Co-authored papers 11
Catharina Schuetz
University Hospital Carl Gustav Carus, Technische Universitat Dresden
Co-authored papers 7
Gerhard Kindle
Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg
Co-authored papers 5
Tim Jeske
Dr. von Hauner Children's Hospital
Co-authored papers 3
Sergio D Rosenzweig
National Institute of Allergy and Infectious Diseases
Co-authored papers 3
Matthias Griese
University of Munich, German Center for Lung Research (DZL)
Co-authored papers 3
Kimberly Gilmour
NIHR Great Ormond Street Hospital BRC
Co-authored papers 3
Julia Pazmandi
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
Co-authored papers 2
Matthias Haimel
University of Cambridge
Co-authored papers 2
Charlotte Cunningham-Rundles
Precision Immunology Institute, Icahn School of Medicine at Mount Sinai
Co-authored papers 2
Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Heiko Krude
Co-authored papers 2
Nada Jabado
McGill University Health Centre (MUHC), Montreal Children's Hospital (MCH)
Co-authored papers 2
Austen Worth
Great Ormond Street Hospital for Children NHS Foundation Trust
Co-authored papers 2
Patrick Nitschke
Co-authored papers 2
Maximilian Hastreiter
Dr. von Hauner Children's Hospital
Co-authored papers 2
Hans Clevers
Princess Maxima Center for Pediatric Oncology
Co-authored papers 1
Joshua D Milner
Columbia University
Co-authored papers 1
Juri Rappsilber
Institute for Biotechnology, Technical University Berlin
Co-authored papers 1
Laylan Bramasole
Research Center Borstel/Leibniz Lung Center
Co-authored papers 1
Michael T Lam
Co-authored papers 1
Christina K Rapp
Ludwig-Maximilians University, German Center for Lung Research (DZL)
Co-authored papers 1
Patrick J McKiernan
Children's Hospital of Pittsburgh
Co-authored papers 1
Andreas Buness
Co-authored papers 1
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 1
David Langlais
McGill University
Co-authored papers 1
Stefan Schreiber
Co-authored papers 1
Yarlalu Thomas
Co-authored papers 1
Tiffany J Callahan
Columbia University
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Release 1.2