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  1. Article ; Online: Germline STAT3 gain-of-function mutations in primary immunodeficiency

    Laura Faletti / Stephan Ehl / Maximilian Heeg

    Biomedical Journal, Vol 44, Iss 4, Pp 412-

    Impact on the cellular and clinical phenotype

    2021  Volume 421

    Abstract: Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor involved in regulation of immune cell activation and differentiation. Recent discoveries highlight the role of germline activating STAT3 mutations in inborn errors ... ...

    Abstract Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor involved in regulation of immune cell activation and differentiation. Recent discoveries highlight the role of germline activating STAT3 mutations in inborn errors of immunity characterized by early-onset multi-organ autoimmunity and lymphoproliferation. Much progress has been made in defining the clinical spectrum of STAT3 GOF disease and unraveling the molecular and cellular mechanisms underlying this disease. In this review, we summarize our current understanding of the disease and discuss the clinical phenotype, diagnostic approach, cellular and molecular effects of STAT3 GOF mutations and therapeutic concepts for these patients.
    Keywords STAT3 GOF ; Inborn errors of immunity ; Autoimmunity ; T cell ; Lymphoproliferation ; Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
    Language English
    Publishing date 2021-08-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Comprehensive infectious disease screening in a cohort of unaccompanied refugee minors in Germany from 2016 to 2017

    Ales Janda / Kristin Eder / Roland Fressle / Anne Geweniger / Natalie Diffloth / Maximilian Heeg / Nadine Binder / Ana-Gabriela Sitaru / Jan Rohr / Philipp Henneke / Markus Hufnagel / Roland Elling

    PLoS Medicine, Vol 17, Iss 3, p e

    A cross-sectional study.

    2020  Volume 1003076

    Abstract: Background Information regarding the prevalence of infectious diseases (IDs) in child and adolescent refugees in Europe is scarce. Here, we evaluate a standardized ID screening protocol in a cohort of unaccompanied refugee minors (URMs) in a municipal ... ...

    Abstract Background Information regarding the prevalence of infectious diseases (IDs) in child and adolescent refugees in Europe is scarce. Here, we evaluate a standardized ID screening protocol in a cohort of unaccompanied refugee minors (URMs) in a municipal region of southwest Germany. Methods and findings From January 2016 to December 2017, we employed a structured questionnaire to screen a cohort of 890 URMs. Collecting sociodemographic information and medical history, we also performed a standardized diagnostics panel, including complete blood count, urine status, microbial stool testing, tuberculosis (TB) screening, and serologies for hepatitis B virus (HBV) and human immunodeficiency virus (HIV). The mean age was 16.2 years; 94.0% were male, and 93.6% originated from an African country. The most common health complaints were dental problems (66.0%). The single most frequent ID was scabies (14.2%). Of the 776 URMs originating from high-prevalence countries, 7.7% and 0.4% tested positive for HBV and HIV, respectively. Nineteen pathogens were detected in a total of 119 stool samples (16.0% positivity), with intestinal schistosomiasis being the most frequent pathogen (6.7%). Blood eosinophilia proved to be a nonspecific criterion for the detection of parasitic infections. Active pulmonary TB was identified in 1.7% of URMs screened. Of note, clinical warning symptoms (fever, cough >2 weeks, and weight loss) were insensitive parameters for the identification of patients with active TB. Study limitations include the possibility of an incomplete eosinophilia workup (as no parasite serologies or malaria diagnostics were performed), as well as the inherent selection bias in our cohort because refugee populations differ across Europe. Conclusions Our study found that standardized ID screening in a URM cohort was practicable and helped collection of relevant patient data in a thorough and time-effective manner. However, screening practices need to be ameliorated, especially in relation to testing for parasitic infections. ...
    Keywords Medicine ; R
    Subject code 610
    Language English
    Publishing date 2020-03-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: High antibody levels and reduced cellular response in children up to one year after SARS-CoV-2 infection

    Eva-Maria Jacobsen / Dorit Fabricius / Magdalena Class / Fernando Topfstedt / Raquel Lorenzetti / Iga Janowska / Franziska Schmidt / Julian Staniek / Maria Zernickel / Thomas Stamminger / Andrea N. Dietz / Angela Zellmer / Manuel Hecht / Peter Rauch / Carmen Blum / Carolin Ludwig / Bernd Jahrsdörfer / Hubert Schrezenmeier / Maximilian Heeg /
    Benjamin Mayer / Alina Seidel / Rüdiger Groß / Jan Münch / Frank Kirchhoff / Sebastian F. N. Bode / Gudrun Strauss / Hanna Renk / Roland Elling / Maximillian Stich / Reinhard E. Voll / Burkhard Tönshof / Axel R. Franz / Philipp Henneke / Klaus-Michael Debatin / Marta Rizzi / Ales Janda

    Nature Communications, Vol 13, Iss 1, Pp 1-

    2022  Volume 16

    Abstract: Severity of SARS-CoV-2 infection is different in adults and children which involves the immune response. Here using a parent and children cohort with 4 month and 12 month sampling times, the authors show enhanced levels and increased breadth of anti- ... ...

    Abstract Severity of SARS-CoV-2 infection is different in adults and children which involves the immune response. Here using a parent and children cohort with 4 month and 12 month sampling times, the authors show enhanced levels and increased breadth of anti-spike antibody level over time but reduced specific T cell and B cell numbers in children.
    Keywords Science ; Q
    Language English
    Publishing date 2022-11-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: OX40 facilitates control of a persistent virus infection.

    Tobias Boettler / Friedrich Moeckel / Yang Cheng / Maximilian Heeg / Shahram Salek-Ardakani / Shane Crotty / Michael Croft / Matthias G von Herrath

    PLoS Pathogens, Vol 8, Iss 9, p e

    2012  Volume 1002913

    Abstract: During acute viral infections, clearance of the pathogen is followed by the contraction of the anti-viral T cell compartment. In contrast, T cell responses need to be maintained over a longer period of time during chronic viral infections in order to ... ...

    Abstract During acute viral infections, clearance of the pathogen is followed by the contraction of the anti-viral T cell compartment. In contrast, T cell responses need to be maintained over a longer period of time during chronic viral infections in order to control viral replication and to avoid viral spreading. Much is known about inhibitory signals such as through PD-1 that limit T cell activity during chronic viral infection, but little is known about the stimulatory signals that allow maintenance of anti-viral T cells. Here, we show that the co-stimulatory molecule OX40 (CD134) is critically required in the context of persistent LCMV clone 13 infection. Anti-viral T cells express high levels of OX40 in the presence of their cognate antigen and T cells lacking the OX40 receptor fail to accumulate sufficiently. Moreover, the emergence of T cell dependent germinal center responses and LCMV-specific antibodies are severely impaired. Consequently, OX40-deficient mice fail to control LCMV clone 13 infection over time, highlighting the importance of this signaling pathway during persistent viral infection.
    Keywords Immunologic diseases. Allergy ; RC581-607 ; Biology (General) ; QH301-705.5
    Subject code 570
    Language English
    Publishing date 2012-09-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Early-onset autoimmunity associated with SOCS1 haploinsufficiency

    Jérôme Hadjadj / Carla Noemi Castro / Maud Tusseau / Marie-Claude Stolzenberg / Fabienne Mazerolles / Nathalie Aladjidi / Martin Armstrong / Houman Ashrafian / Ioana Cutcutache / Georg Ebetsberger-Dachs / Katherine S. Elliott / Isabelle Durieu / Nicole Fabien / Mathieu Fusaro / Maximilian Heeg / Yohan Schmitt / Marc Bras / Julian C. Knight / Jean-Christophe Lega /
    Gaetan Lesca / Anne-Laure Mathieu / Marion Moreews / Baptiste Moreira / Audrey Nosbaum / Matthew Page / Cécile Picard / T. Ronan Leahy / Isabelle Rouvet / Ethel Ryan / Damien Sanlaville / Klaus Schwarz / Andrew Skelton / Jean-Francois Viallard / Sebastien Viel / Marine Villard / Isabelle Callebaut / Capucine Picard / Thierry Walzer / Stephan Ehl / Alain Fischer / Bénédicte Neven / Alexandre Belot / Frédéric Rieux-Laucat

    Nature Communications, Vol 11, Iss 1, Pp 1-

    2020  Volume 11

    Abstract: SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoimmune ... ...

    Abstract SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoimmune diseases.
    Keywords Science ; Q
    Language English
    Publishing date 2020-10-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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    Inter-library loan at ZB MED

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  6. Article ; Online: Early-onset autoimmunity associated with SOCS1 haploinsufficiency

    Jérôme Hadjadj / Carla Noemi Castro / Maud Tusseau / Marie-Claude Stolzenberg / Fabienne Mazerolles / Nathalie Aladjidi / Martin Armstrong / Houman Ashrafian / Ioana Cutcutache / Georg Ebetsberger-Dachs / Katherine S. Elliott / Isabelle Durieu / Nicole Fabien / Mathieu Fusaro / Maximilian Heeg / Yohan Schmitt / Marc Bras / Julian C. Knight / Jean-Christophe Lega /
    Gaetan Lesca / Anne-Laure Mathieu / Marion Moreews / Baptiste Moreira / Audrey Nosbaum / Matthew Page / Cécile Picard / T. Ronan Leahy / Isabelle Rouvet / Ethel Ryan / Damien Sanlaville / Klaus Schwarz / Andrew Skelton / Jean-Francois Viallard / Sebastien Viel / Marine Villard / Isabelle Callebaut / Capucine Picard / Thierry Walzer / Stephan Ehl / Alain Fischer / Bénédicte Neven / Alexandre Belot / Frédéric Rieux-Laucat

    Nature Communications, Vol 11, Iss 1, Pp 1-

    2020  Volume 11

    Abstract: SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoimmune ... ...

    Abstract SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoimmune diseases.
    Keywords Science ; Q
    Language English
    Publishing date 2020-10-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

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