Tim Niehues
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View article: Truncating <i>RELA</i> variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-kB
Truncating <i>RELA</i> variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-kB Open
The NF-κB signaling pathway coordinates inflammation, cell survival, and proliferation, while restraining excessive cell death to maintain immune homeostasis. Truncating mutations in RELA , encoding the NF-κB subunit p65, have been linked …
View article: BONE MARROW FAILURE IN LIGASE IV DEFICIENCY CURED BY ALLOGENEIC HSCT
BONE MARROW FAILURE IN LIGASE IV DEFICIENCY CURED BY ALLOGENEIC HSCT Open
View article: A human NK cell progenitor that originates in the thymus and generates KIR <sup>+</sup> NKG2A <sup>−</sup> NK cells
A human NK cell progenitor that originates in the thymus and generates KIR <sup>+</sup> NKG2A <sup>−</sup> NK cells Open
KIR + NKG2A − natural killer (NK) cells have the unique ability to detect down-regulation of single HLA-I allotypes, frequently occurring in malignantly transformed and virus-infected cells. We have recently shown that circulating innate l…
View article: Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes
Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes Open
View article: Approaches to Invasive Fungal Diseases in Paediatric Cancer Centres: An Analysis of Current Practices and Challenges in Germany, Austria and Switzerland
Approaches to Invasive Fungal Diseases in Paediatric Cancer Centres: An Analysis of Current Practices and Challenges in Germany, Austria and Switzerland Open
Background Invasive fungal diseases (IFD) pose significant challenges in paediatric oncology. Their management is complicated by limited paediatric‐specific evidence, lack of standardised protocols and variability in resources across centr…
View article: ISCL/EORTC-CLTG/USCLC recommendations for the diagnosis, staging and treatment of early-stage paediatric mycosis fungoides: a modified Delphi consensus. Part two: treatment
ISCL/EORTC-CLTG/USCLC recommendations for the diagnosis, staging and treatment of early-stage paediatric mycosis fungoides: a modified Delphi consensus. Part two: treatment Open
Paediatric mycosis fungoides (MF) is characterized by early-stage disease, a strikingly indolent course and high rates of unusual variants. Despite these clinical peculiarities and the special treatment-related safety considerations in chi…
View article: ISCL/EORTC-CLTG/USCLC recommendations for the diagnosis, staging and treatment of early-stage paediatric mycosis fungoides: a modified Delphi consensus. Part one: diagnosis and staging
ISCL/EORTC-CLTG/USCLC recommendations for the diagnosis, staging and treatment of early-stage paediatric mycosis fungoides: a modified Delphi consensus. Part one: diagnosis and staging Open
Mycosis fungoides (MF) is considered rare in children and adolescents. Accumulating experience indicates that compared with adult patients, almost all paediatric patients with MF are diagnosed at an early stage of disease, exhibit higher r…
View article: Schneller zur genetischen Diagnose bei Kindern mit auffälliger Fazies durch künstliche Intelligenz
Schneller zur genetischen Diagnose bei Kindern mit auffälliger Fazies durch künstliche Intelligenz Open
Zusammenfassung Die Blickdiagnose gehört zu den ältesten und faszinierendsten Fähigkeiten in der Medizin. Sie erlaubt es, allein durch den geübten Blick eine Diagnose zu stellen oder zumindest eine Verdachtsdiagnose zu formulieren. Bei sel…
View article: Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care
Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care Open
Purpose Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted i…
View article: Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever Open
Introduction Familial Mediterranean fever (FMF) is a genetic disease leading to recurrent episodes of inflammation. Two pathogenic variants are required for classical disease, but the disease can occur in heterozygous patients. Patients ar…
View article: <scp>HIV</scp> postnatal prophylaxis and infant feeding policies vary across Europe: results of a Penta survey
<span>HIV</span> postnatal prophylaxis and infant feeding policies vary across Europe: results of a Penta survey Open
Objectives This survey was conducted to describe current European postnatal prophylaxis (PNP) and infant feeding policies with the aim of informing future harmonized guidelines. Methods A total of 32 senior clinicians with relevant experti…
View article: Case report: Life threatening hyponatremia in infants with urinary tract infections: two cases of type III pseudohypoaldosteronism and review of the literature
Case report: Life threatening hyponatremia in infants with urinary tract infections: two cases of type III pseudohypoaldosteronism and review of the literature Open
We describe two female infants at the age of five and six months with urinary tract infections presenting with vomiting and reduced drinking behavior. On laboratory analysis, severe hyponatremia (106 mmol/L and 109 mmol/L) was seen with hy…
View article: Rapid identification of primary atopic disorders (PAD) by a clinical landmarkguided, upfront use of genomic sequencing
Rapid identification of primary atopic disorders (PAD) by a clinical landmarkguided, upfront use of genomic sequencing Open
Primary atopic disorders (PAD) are monogenic disorders caused by pathogenic gene variants encoding proteins that are key for the maintenance of a healthy skin barrier and a well-functioning immune system. Physicians face the challenge to f…
View article: Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A) Open
Introduction Inborn errors of immunity (IEI) are characterized by a dysfunction of the immune system leading to increased susceptibility to infections, impaired immune regulation and cancer. We present a unique consanguineous family with a…
View article: A complex intervention to prevent medication-related hospital admissions—results of the stepped-wedge cluster randomized trial KiDSafe in pediatrics
A complex intervention to prevent medication-related hospital admissions—results of the stepped-wedge cluster randomized trial KiDSafe in pediatrics Open
The introduction of PaedPharm was associated with a decrease in medication-related hospitalizations that did not reach statistical significance. The process evaluation revealed broad acceptance of the intervention in outpatient pediatrics …
View article: Nucleoside/nucleotide reverse transcriptase inhibitor sparing regimen with once daily integrase inhibitor plus boosted darunavir is non-inferior to standard of care in virologically-suppressed children and adolescents living with HIV – Week 48 results of the randomised SMILE Penta-17-ANRS 152 clinical trial
Nucleoside/nucleotide reverse transcriptase inhibitor sparing regimen with once daily integrase inhibitor plus boosted darunavir is non-inferior to standard of care in virologically-suppressed children and adolescents living with HIV – Week 48 results of the randomised SMILE Penta-17-ANRS 152 clinical trial Open
View article: Corrigendum to ‘Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry’ [Eur J Cancer 180 (2023) 71–84]
Corrigendum to ‘Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry’ [Eur J Cancer 180 (2023) 71–84] Open
View article: Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API) Open
View article: Comparing SARS-CoV-2 variants among children and adolescents in Germany: relative risk of COVID-19-related hospitalization, ICU admission and mortality
Comparing SARS-CoV-2 variants among children and adolescents in Germany: relative risk of COVID-19-related hospitalization, ICU admission and mortality Open
View article: Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)
Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API) Open
Background T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019. Methods Children with abnormal TREC-NBS were referred to a newly establ…
View article: Association of SARS-CoV-2 Seropositivity With Myalgic Encephalomyelitis and/or Chronic Fatigue Syndrome Among Children and Adolescents in Germany
Association of SARS-CoV-2 Seropositivity With Myalgic Encephalomyelitis and/or Chronic Fatigue Syndrome Among Children and Adolescents in Germany Open
Importance During the COVID-19 pandemic, a reduction in quality of life and physical and mental health among children and adolescents has been reported that may be associated with SARS-CoV-2 infection and/or containment measures. Objective…
View article: Systemic Lupus Erythematosus due to Gain-of-Function Mutation in UNC93B1
Systemic Lupus Erythematosus due to Gain-of-Function Mutation in UNC93B1 Open
Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by the loss of tolerance to nuclear antigens. Activation of type I interferon (IFN) induced by immune recognition of self-nucleic acids by endosomal Toll-like recep…
View article: Freiwillige vor! „Human challenge“ mit SARS-CoV-2
Freiwillige vor! „Human challenge“ mit SARS-CoV-2 Open
View article: Cross-sectional seroprevalence surveys of SARS-CoV-2 antibodies in children in Germany, June 2020 to May 2021
Cross-sectional seroprevalence surveys of SARS-CoV-2 antibodies in children in Germany, June 2020 to May 2021 Open
View article: Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia Open
View article: Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation
Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation Open
View article: Experiences with IL-1 blockade in systemic juvenile idiopathic arthritis – data from the German AID-registry
Experiences with IL-1 blockade in systemic juvenile idiopathic arthritis – data from the German AID-registry Open
View article: SARS-CoV-2 Antibodies in Children: A One-Year Seroprevalence Study From June 2020 to May 2021 in Germany
SARS-CoV-2 Antibodies in Children: A One-Year Seroprevalence Study From June 2020 to May 2021 in Germany Open
View article: Analysis of chromosomal aberrations and γH2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients
Analysis of chromosomal aberrations and γH2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients Open
Ataxia-telangiectasia (AT) is a rare inherited recessive disorder which is caused by a mutated Ataxia-telangiectasia mutated (ATM) gene. Hallmarks include chromosomal instability, cancer predisposition and increased sensitivity to ionizing…
View article: Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential
Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential Open