Explanipedia

Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes Open

Lisa Ehlers, Marjon Wouters, Bethany Pillay, Selket Delafontaine, Mariia Dzhus , et al. · 2025

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts Open

Renata Neves, Blanca De Dios Pérez, Rafał Panek, Sumit Jagani, Sophie Wilne , et al. · 2023

Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A‐…

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50 Open

Manfred Fliegauf, Matias Kinnunen, Sara Posadas‐Cantera, Nadezhda Camacho-Ordóñez, Hassan Abolhassani , et al. · 2022

Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B subunit 1) variants comprise deleterious defects such as severe truncations, internal deletions, and frameshift variants. Collectively, these represent the m…

Systemic Lupus Erythematosus due to Gain-of-Function Mutation in UNC93B1 Open

Christine Wolf, Barbara Kind, Ee Lyn Lim, Gregor Dückers, Sarah Koss , et al. · 2022

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…

Rubella vaccine–induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity Open

Miriam Groß, Carsten Speckmann, Annette May, Tania Gajardo-Carrasco, Katharina Wustrau , et al. · 2021

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations Open

Julian Thalhammer, Gerhard Kindle, Alexandra Nieters, Stephan Rusch, Mikko Seppänen , et al. · 2021

Analysis of chromosomal aberrations and γH2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients Open

Martin Bucher, David Endesfelder, Ute Roessler, Arndt Borkhardt, Gregor Dückers , et al. · 2020

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…

A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS Open

Maria Elena Maccari, Sebastian Fuchs, Patrick Küry, Geoffroy Andrieux, Simon Völkl , et al. · 2020

The identification and characterization of rare immune cell populations in humans can be facilitated by their growth advantage in the context of specific genetic diseases. Here, we use autoimmune lymphoproliferative syndrome to identify a …

Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential Open

Iris Meixner, Beate Hagl, Carolin Kröner, Benedikt D. Spielberger, Ekaterini Paschos , et al. · 2020

Juvenile Idiopathic Arthritis Open

Gregor Dückers · 2020

Tibial Torsion DefectsThe authors summarized the information well (1).However, I think they omitted a very important aspect of possibly congenital incorrect posture including the examination: tibial torsion defects.Most commonly in a tibia…

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency Open

Sujal Ghosh, Sevgi Köstel Bal, Emily S.J. Edwards, Bethany Pillay, Raúl Jiménez Heredia , et al. · 2020

Biallelic mutations in the genes encoding CD27 or its ligand CD70 underlie inborn errors of immunity (IEIs) characterized predominantly by Epstein-Barr virus (EBV)-associated immune dysregulation, such as chronic viremia, severe infectious…

Mutations of the gene <i>FNIP1</i> associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome Open

Tim Niehues, Tuba Turul Özgür, Marie S Bickes, Rebekka Waldmann, Jennifer Schöning , et al. · 2020

AMPK (adenosine monophosphate-activated protein kinase) is phosphorylated (AMPK-P) in response to low energy through allosteric activation by Adenosine mono- or diphosphate (AMP/ADP). Folliculin (FLCN) and the FLCN-interacting proteins 1 a…

Retained primary teeth in STAT3 hyper-IgE syndrome: Early intervention in childhood is essential Open

Iris Meixner, Beate Hagl, Carolin Kröner, Benedikt D. Spielberger, Ekaterini Paschos , et al. · 2019

Objectives: To optimize dental management we evaluated development of the dentition and long-term outcome of dental treatment in STAT3 hyper-IgE syndrome (STAT3-HIES), a rare primary immunodeficiency clinically overlapping with atopic derm…

The German National Registry of Primary Immunodeficiencies (2012–2017) Open

Sabine M. El-Helou, Anika-Kerstin Biegner, Sebastian Bode, Stephan Ehl, Maximilian Heeg , et al. · 2019

Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. …

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency Open

Stefano Volpi, Maria Pia Cicalese, Paul Tuijnenburg, Anton T. J. Tool, Eloy Cuadrado , et al. · 2019

We report the natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency, delineating the spectrum of the disease that appears progressive and challenging to …

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects Open

Charlotte Schwab, Annemarie Gabrysch, Peter Olbrich, Virginia Patiño, Klaus Warnatz , et al. · 2018

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study Open

Federica Barzaghi, Laura Amaya, Bénédicte Neven, Silvia Ricci, Zeynep Yesim Kucuk , et al. · 2017

Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life,…

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea Open

Britt‐Sabina Petersen, Dietrich August, Renate Abt, Moudjahed Saleh Al-Ddafari, Lida Atarod , et al. · 2017

Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.

Human RAD52 – a novel player in DNA repair in cancer and immunodeficiency Open

Sujal Ghosh, Andrea Hönscheid, Gregor Dückers, Sebastian Ginzel, Holger Gohlke , et al. · 2016

Human RAD52 -a novel player in DNA repair in cancer and immunodeficiency Exposure to mutagenic sources such as ionizing radiation or chemical agents leads to damage of the genome, however, DNA double-strand breaks (DSB) and the subsequent …

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 Open

Mark Depner, Sebastian Fuchs, Jan Raabe, Natalie Frede, Cristina Glocker , et al. · 2015

Interleukin (IL)- 6 inhibition - Follow-up data of the German AID-registry1 Open

Maciej Bielak, E Husmann, N. Weyandt, Johannes‐Peter Haas, Gerd Horneff , et al. · 2015

Systemic juvenile idiopathic arthritis (SJIA) is regarded as an autoinflammatory disease (AID) of unknown etiology related to abnormalities of the innate immune system. A major role in the pathogenesis has been ascribed to proinflammatory …

Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation Open

Louise Malle, Bernadette Marrero, Y Liu, Gina Montealegre, Dawn Chapelle , et al. · 2015

Gregor Dückers YOU? Author Swipe