Tim Niehues
A5045822524- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Autoimmune and Inflammatory Disorders Research
- Inflammasome and immune disorders
- Blood disorders and treatments
- HIV Research and Treatment
- HIV/AIDS Research and Interventions
- Adolescent and Pediatric Healthcare
- HIV/AIDS drug development and treatment
- T-cell and B-cell Immunology
- Pneumocystis jirovecii pneumonia detection and treatment
- Cytomegalovirus and herpesvirus research
- Childhood Cancer Survivors' Quality of Life
- Respiratory viral infections research
- Acute Lymphoblastic Leukemia research
- Systemic Lupus Erythematosus Research
- HIV-related health complications and treatments
- Hematopoietic Stem Cell Transplantation
- Immune Response and Inflammation
- Parvovirus B19 Infection Studies
- interferon and immune responses
- Diabetes and associated disorders
- Blood groups and transfusion
- Neonatal Respiratory Health Research
- Immune responses and vaccinations
Helios Klinikum Krefeld
2016-2025
RWTH Aachen University
2012-2025
Helios Kliniken
2008-2022
Erasmus University Rotterdam
2020
Erasmus MC
2020
Heinrich Heine University Düsseldorf
2005-2015
Zentrum für Kinderheilkunde
2001-2013
Universitätskinderklinik
2000-2012
Boston Children's Hospital
2002-2012
Essen University Hospital
2012
The fatal immune dysregulation that sometimes follows EBV infection in boys has been linked to mutations two X chromosome-encoded genes, SLAM-associated protein (SAP) and X-linked inhibitor of apoptosis (XIAP). In this study we describe 2 girls from a consanguineous Turkish family who died after developing severe therapy-resistant EBV-positive B cell proliferation following infection. SNP array-based genome-wide linkage analysis revealed IL-2-inducible T kinase (ITK) as candidate gene for...
Patients with mutations of the recombination-activating genes (RAG) present diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, incidence extent dysregulation in RAG-dependent immunodeficiency have not been studied detail. Here, we demonstrated that patients hypomorphic RAG mutations, especially those delayed-onset granulomatous/autoimmune manifestations (CID-G/AI), produce a broad spectrum autoantibodies. Neutralizing...
UNC93B1 is critical for trafficking and function of nucleic acid-sensing Toll-like receptors (TLRs) TLR3, TLR7, TLR8, TLR9, which are essential antiviral immunity. Overactive TLR7 signaling induced by recognition self-nucleic acids has been implicated in systemic lupus erythematosus (SLE). Here, we report variants (E92G R336L) four patients with early-onset SLE. Patient cells or mouse macrophages carrying the produced high amounts TNF-α IL-6 upon stimulation TLR7/TLR8 agonist, but not TLR3...
We describe three unrelated girls who had an immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. All severe complications after viral infections, including B-cell lymphoma associated Epstein-Barr virus (EBV). Other findings were hypogammaglobulinemia, a diminished number of T B cells, sparse thymic tissue on ultrasonography. Molecular analysis revealed that patients compound heterozygotes for mutations recombination activating gene 1 or 2 (RAG1 RAG2)....
Abstract The V-ATPase is the main regulator of intra-organellar acidification. Assembly this complex has extensively been studied in yeast, while limited knowledge exists for man. We identified 11 male patients with hemizygous missense mutations ATP6AP1 , encoding accessory protein Ac45 V-ATPase. Homology detection at level sequence profiles indicated as long-sought human homologue yeast assembly factor Voa1. Processed wild-type Ac45, but not its disease mutants, restored V-ATPase-dependent...
Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result unbalanced STAT signaling cause immune dysregulation immunodeficiency. The latter is often characterized by susceptibility to recurrent Candida infections, resulting clinical picture chronic mucocutaneous candidiasis (CMC). This study aims assess frequency GOF STAT1 a large international cohort CMC patients. was sequenced genomic DNA from 57 patients 35 healthy family members. functional...
Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children and adolescents. Immunomodulatory drugs are used frequently its treatment. Using nominal group technique (NGT) Delphi method, we created a multidisciplinary, evidence- consensus-based treatment guideline for JIA based on systematic literature analysis three consensus conferences. Conferences were headed by professional moderator attended representatives who had been nominated their scientific societies or...
Introduction: The German PID-NET registry was founded in 2009, serving as the first national of patients with primary immunodeficiencies (PID) Germany. It is part European Society for Immunodeficiencies (ESID) registry. purpose to gather data on epidemiology, diagnostic delay, diagnosis, and treatment PIDs. Methods: Clinical laboratory collected from 2,453 36 PID centres an online Data analysed software Stata® Excel. Results: minimum prevalence Germany 2.72 per 100,000 inhabitants. Among...