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JOURNAL ARTICLE
Pauline Hägele, Paulina Staus, Raphael Scheible, Annette Uhlmann, Maximilian Heeg, Christian Klemann, Maria Elena Maccari, Henrike Ritterbusch, Martin Armstrong, Ioana Cutcutache, Katherine S Elliott, Horst von Bernuth, Timothy Ronan Leahy, Jörg Leyh, Dirk Holzinger, Kai Lehmberg, Peter Svec, Katja Masjosthusmann, Sophie Hambleton, Marcus Jakob, Monika Sparber-Sauer, Leo Kager, Alexander Puzik, Martin Wolkewitz, Myriam Ricarda Lorenz, Klaus Schwarz, Carsten Speckmann, Anne Rensing-Ehl, Stephan Ehl
BACKGROUND: Lymphoproliferation and autoimmune cytopenias characterise autoimmune lymphoproliferative syndrome. Other conditions sharing these manifestations have been termed autoimmune lymphoproliferative syndrome-like diseases, although they are frequently more severe. The aim of this study was to define the genetic, clinical, and immunological features of these disorders to improve their diagnostic classification. METHODS: In this prospective cohort study, patients were referred to the Center for Chronic Immunodeficiency in Freiburg, Germany, between Jan 1, 2008 and March 5, 2022...
February 2024: Lancet Haematology
#2
REVIEW
Dieter Riemann, Colin A Espie, Ellemarije Altena, Erna Sif Arnardottir, Chiara Baglioni, Claudio L A Bassetti, Celyne Bastien, Natalija Berzina, Bjørn Bjorvatn, Dimitris Dikeos, Leja Dolenc Groselj, Jason G Ellis, Diego Garcia-Borreguero, Pierre A Geoffroy, Michaela Gjerstad, Marta Gonçalves, Elisabeth Hertenstein, Kerstin Hoedlmoser, Tuuliki Hion, Brigitte Holzinger, Karolina Janku, Markus Jansson-Fröjmark, Heli Järnefelt, Susanna Jernelöv, Poul Jørgen Jennum, Samson Khachatryan, Lukas Krone, Simon D Kyle, Jaap Lancee, Damien Leger, Adrian Lupusor, Daniel Ruivo Marques, Christoph Nissen, Laura Palagini, Tiina Paunio, Lampros Perogamvros, Dirk Pevernagie, Manuel Schabus, Tamar Shochat, Andras Szentkiralyi, Eus Van Someren, Annemieke van Straten, Adam Wichniak, Johan Verbraecken, Kai Spiegelhalder
Progress in the field of insomnia since 2017 necessitated this update of the European Insomnia Guideline. Recommendations for the diagnostic procedure for insomnia and its comorbidities are: clinical interview (encompassing sleep and medical history); the use of sleep questionnaires and diaries (and physical examination and additional measures where indicated) (A). Actigraphy is not recommended for the routine evaluation of insomnia (C), but may be useful for differential-diagnostic purposes (A). Polysomnography should be used to evaluate other sleep disorders if suspected (i...
December 2023: Journal of Sleep Research
#3
JOURNAL ARTICLE
Anne Rensing-Ehl, Myriam Ricarda Lorenz, Marita Führer, Wolfgang Willenbacher, Ella Willenbacher, Sieghart Sopper, Mario Abinun, Maria Elena Maccari, Christoph König, Pauline Haegele, Sebastian Fuchs, Carla Castro, Patrick Kury, Olivier Pelle, Christian Klemann, Maximilian Heeg, Julian Thalhammer, Oliver Wegehaupt, Marco Fischer, Sigune Goldacker, Björn Schulte, Saskia Biskup, Philippe Chatelain, Volker Schuster, Klaus Warnatz, Bodo Grimbacher, Andrea Meinhardt, Dirk Holzinger, Prasad Thomas Oommen, Tanja Hinze, Holger Hebart, Karlheinz Seeger, Kai Lehmberg, Timothy Ronan Leahy, Alexander Claviez, Simon Vieth, Freimut H Schilling, Ilka Fuchs, Miriam Groß, Frederic Rieux-Laucat, Aude Magerus, Carsten Speckmann, Klaus Schwarz, Stephan Ehl
BACKGROUND: Elevated TCRαβ+ CD4- CD8- double-negative T-cells (DNT) and serum biomarkers help identifying FAS mutant patients with autoimmune lymphoproliferative syndrome (ALPS). However, in some patients with clinical features and biomarkers consistent with ALPS, germline or somatic FAS mutations cannot be identified upon standard exon sequencing (ALPS-undetermined: ALPS-U). OBJECTIVE: We aimed to explore whether complex genetic alterations in the FAS gene escaping standard sequencing or mutations in other FAS pathway-related genes could explain these cases...
November 16, 2023: Journal of Allergy and Clinical Immunology
#4
JOURNAL ARTICLE
Dirk Foell, Melanie Saers, Carolin Park, Ninna Brix, Mia Glerup, Christoph Kessel, Helmut Wittkowski, Claas Hinze, Lillemor Berntson, Anders Fasth, Charlotte Myrup, Ellen Nordal, Marite Rygg, Henrik Hasle, Birgitte Klug Albertsen, Troels Herlin, Dirk Holzinger, Christian Niederberger, Bernhard Schlüter
BACKGROUND: Differential diagnosis in children with signs of unprovoked inflammation can be challenging. In particular, differentiating systemic juvenile idiopathic arthritis (SJIA) from other diagnoses is difficult. We have recently validated the complex of myeloid-related proteins 8/14 (MRP8/14, also known as S100A8/A9 complex or serum calprotectin) as a helpful biomarker supporting the diagnosis of SJIA. The results were subsequently confirmed with a commercial ELISA. However, further optimization of the analytical technology is important to ensure its feasibility for large-scale use in routine laboratory settings...
October 25, 2023: Molecular and Cellular Pediatrics
#5
REVIEW
Manel Mejbri, Raffaele Renella, Fabio Candotti, Cecile Jaques, Dirk Holzinger, Michael Hofer, Katerina Theodoropoulou
PSTPIP1 (proline-serine-threonine phosphatase-interactive protein 1)-associated myeloid-related proteinemia inflammatory (PAMI) syndrome, previously known as Hyperzincemia/Hypercalprotectinemia (Hz/Hc) syndrome, is a recently described, rare auto-inflammatory disorder caused by specific deleterious variants in the PSTPIP1 gene (p.E250K and p.E257K). The disease is characterized by chronic systemic inflammation, cutaneous and osteoarticular manifestations, hepatosplenomegaly, anemia, and neutropenia. Increased blood levels of MRP 8/14 and zinc distinguish this condition from other PSTPIP1-associated inflammatory diseases (PAID)...
August 19, 2023: Genes
#6
JOURNAL ARTICLE
Julia Kuehn, Susanne Schleifenbaum, Michaela Hendling, Sandra Siebenhandl, Julie Krainer, Sabrina Fuehner, Antje Hellige, Carolin Park, Claas Hinze, Helmut Wittkowski, Dirk Holzinger, Lorenz Thurner, Andreas Weinhäusel, Dirk Foell, Christoph Kessel
OBJECTIVE: Systemic juvenile idiopathic arthritis (sJIA) features characteristics of autoinflammation and autoimmunity, culminating in chronic arthritis. Here, we hypothesized aberrant or incomplete Th cell polarization to contribute to disease pathology. METHODS: Cells or sera were obtained from healthy controls (HC, n=72) and sJIA patients (n=171). Isolated naïve Th cells were cultured under Th1, Th17, and T follicular or T peripheral helper (Tf/ph) polarizing conditions and were partly co-cultured with allogenic memory B cells and analyzed for surface marker, transcription factor and cytokine expression as well as plasma blast generation...
November 21, 2022: Arthritis & Rheumatology
#7
JOURNAL ARTICLE
Rensheng Wan, Johannes Fänder, Ia Zakaraia, Min Ae Lee-Kirsch, Christine Wolf, Nadja Lucas, Lisa Isabel Olfe, Corinna Hendrich, Danny Jonigk, Dirk Holzinger, Mathis Steindor, Gunnar Schmidt, Claudia Davenport, Christian Klemann, Nicolaus Schwerk, Matthias Griese, Brigitte Schlegelberger, Florian Stehling, Christine Happle, Bernd Auber, Doris Steinemann, Martin Wetzke, Sandra von Hardenberg
Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 ( STING1 ) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI). Previously, only heterozygous and mostly de novo STING1 variants have been reported to cause SAVI. Interestingly, one variant that only leads to SAVI when homozygous, namely c.841C>T p.(Arg281Trp), has recently been described. However, there are no entries in public databases regarding an autosomal recessive pattern of inheritance. Here, we report four additional unrelated SAVI patients carrying c...
2022: Frontiers in Immunology
#8
JOURNAL ARTICLE
Laura M Moser, Julia Fekadu, André Willasch, Eva Rettinger, Jan Sörensen, Andrea Jarisch, Marta Kirwil, Adrian Lieb, Dirk Holzinger, Gabriele Calaminus, Peter Bader, Shahrzad Bakhtiar
Patients with inborn errors of immunity (IEI) can suffer from treatment-refractory inflammatory bowel disease (IBD) causing failure to thrive and consequences of long-term multiple immunosuppressive treatments. Allogeneic haematopoietic stem cell transplantation (alloHSCT) can serve as a curative treatment option. In this single-centre retrospective cohort study we report on 11 paediatric and young adult IEI patients with IBD and failure to thrive, who had exhausted symptomatic treatment options and received alloHSCT...
October 10, 2022: British Journal of Haematology
#9
JOURNAL ARTICLE
Prasad T Oommen, Timmy Strauss, Karen Baltruschat, Ivan Foeldvari, Christoph Deuter, Gerd Ganser, Johannes-Peter Haas, Claas Hinze, Dirk Holzinger, Anton Hospach, Hans-Iko Huppertz, Arnold Illhardt, Michael Jung, Tilmann Kallinich, Ariane Klein, Kirsten Minden, Kirsten Mönkemöller, Sonja Mrusek, Ulrich Neudorf, Gregor Dückers, Tim Niehues, Matthias Schneider, Philipp Schoof, Angelika Thon, Michael Wachowsky, Norbert Wagner, Susanne Bloedt, Michaël Hofer, Klaus Tenbrock, Catharina Schuetz
BACKGROUND: New therapeutic strategies for juvenile idiopathic arthritis (JIA) have evolved within the past ten years, and as a result, an update of the 2011 recommendations of the German management guidelines was initiated. METHODS: A systemic literature review was performed, overarching principles were proposed and pre-selected via an online survey followed by two multidisciplinary consensus conferences. Pharmacological and non-pharmacological treatments were discussed, statements were proposed and ultimately agreed upon by nominal group technique (NGT)...
September 30, 2022: Clinical Immunology: the Official Journal of the Clinical Immunology Society
#10
JOURNAL ARTICLE
Daniel Holzinger, Magdalena Dall, Sandra Kiblböck, Evelien Dirks, Peter Carew, Libby Smith, Lilian Downie, Daisy A Shepherd, Valerie Sung
GJB2-associated hearing loss (GJB2-HL) is the most common genetic cause of hearing loss in children. However, little is known about the clinical characteristics and early language outcomes in population-oriented samples including children with different degrees of hearing loss. Insight into these characteristics are relevant for the counselling of parents. Our sample consisted of 66 children at approximately 2 years of age (17-32 months) with bilateral hearing loss due to GJB2 from three population-based cohorts in Austria, Australia and the Netherlands...
July 1, 2022: Children
#11
JOURNAL ARTICLE
Emma J Sumner, Beverley Almeida, Jason Palman, Peter Bale, Clare Heard, Dirk Holzinger, Johannes Roth, Dirk Foell, Emily Robinson, Simona Ursu, Chris Wallace, Kimberly Gilmour, Lucy R Wedderburn, Elizabeth Ralph
The objective of this study was to determine the effectiveness of MRP8/14 as a predictor of disease flare in patients with juvenile idiopathic arthritis (JIA) following the withdrawal of methotrexate (MTX) in a routine clinical setting. All MRP8/14 tests performed at a single centre in a 27-month period were considered for analysis. Patients were assessed against criteria for inactive disease and subsequent disease flare. Decisions on whether or not to stop treatment were recorded. MRP8/14 results were assessed in conjunction with clinical information...
April 29, 2022: Clinical Rheumatology
#12
JOURNAL ARTICLE
Merlin Wennmann, Simone Kathemann, Kristina Kampmann, Sinja Ohlsson, Anja Büscher, Dirk Holzinger, Adela Della Marina, Elke Lainka
Background: Rituximab (RTX) is used in cancer therapy as well as in the treatment of autoimmune diseases and alloimmune responses after transplantation. It depletes the disease-causing B cells by binding to the CD (cluster of differentiation) 20 antigen. We evaluate different pediatric treatment protocols (via fixed treatment schedule, B cell- or symptom-controlled) and their therapeutic effects. Methods: Demographic information, clinical and laboratory characteristics, and special laboratory values such as immunoglobulin G (IgG), CD19 positive B cells and Epstein-Barr viral load were retrospectively analyzed in children treated with RTX between 2008 and 2016...
2021: Frontiers in Pediatrics
#13
JOURNAL ARTICLE
Carolin Park, María Miranda-Garcia, Rainer Berendes, Gerd Horneff, Jasmin Kuemmerle-Deschner, Gerd Ganser, Hans-Iko Huppertz, Kirsten Minden, Johannes-Peter Haas, Annette F Jansson, Michael Borte, Catharina Schuetz, Prasad Oommen, Michael Frosch, Bernhard Schlueter, Annette Richter-Unruh, Christoph Kessel, Claas Hinze, Helmut Wittkowski, Johannes Roth, Dirk Foell, Dirk Holzinger
OBJECTIVES: Differential diagnosis in children with prolonged fever is challenging. In particular, differentiating systemic-onset JIA (SJIA) from infectious diseases is difficult. Biomarkers are needed that support the diagnostic work-up. The aim of this study was to validate the usefulness of Myeloid-related protein 8/14 (MRP8/14) measurements in the diagnostic work-up of febrile children and to transfer it to clinical practice. METHODS: Data for 1110 paediatric patients were included and divided into two cohorts: (cohort A) for validation of MRP8/14 test performance with three different testing systems: the experimental ELISA, commercial ELISA and an innovative (point-of-care test) lateral flow immunoassay (LFIA); (cohort B) to validate the diagnostic accuracy with the two latter assays...
July 6, 2022: Rheumatology
#14
JOURNAL ARTICLE
Claire G Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Amber McCartney, Joseph S Leslie, Andrea Accogoli, Frederico Zara, Monica Traverso, James Fasham, Joshua A Lees, Matteo Ferla, Barry A Chioza, Olivia Wenger, Ethan Scott, Harold E Cross, Joanna Crawford, Ilka Warshawsky, Matthew Keisling, Dimitris Agamanolis, Catherine Ward Melver, Helen Cox, Mamoun Elawad, Tamas Marton, Matthew Wakeling, Dirk Holzinger, Stephan Tippelt, Martin Munteanu, Deyana Valcheva, Christin Deal, Sara Van Meerbeke, Catherine Walsh Vockley, Manish J Butte, Utkucan Acar, Marjo S van der Knaap, G Christoph Korenke, Urania Kotzaeridou, Tamas Balla, Cas Simons, Holm H Uhlig, Andrew H Crosby, Pietro De Camilli, Nicole I Wolf, Emma L Baple
Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα's role in PI4P generation requires its assembly into a heterotetrameric complex with EFR3, TTC7 and FAM126. Sequence alterations in two of these molecular partners, TTC7 (encoded by TTC7A or TCC7B) and FAM126, have been associated with a heterogeneous group of either neurological (FAM126A) or intestinal and immunological (TTC7A) conditions...
August 20, 2021: Brain
#15
JOURNAL ARTICLE
Axel Schmidt, Sophia Peters, Alexej Knaus, Hemmen Sabir, Frauke Hamsen, Carlo Maj, Julia Fazaal, Sugirthan Sivalingam, Oleksandr Savchenko, Aakash Mantri, Dirk Holzinger, Ulrich Neudorf, Andreas Müller, Kerstin U Ludwig, Peter M Krawitz, Hartmut Engels, Markus M Nöthen, Soyhan Bagci
Among children, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections are typically mild. Here, we describe the case of a 3.5-year-old girl with an unusually severe presentation of coronavirus disease (COVID-19). The child had an autoinflammatory disorder of unknown etiology, which had been treated using prednisolone and methotrexate, and her parents were half cousins of Turkish descent. After 5 days of nonspecific viral infection symptoms, tonic-clonic seizures occurred followed by acute cardiac insufficiency, multi-organ insufficiency, and ultimate death...
July 1, 2021: NPJ Genomic Medicine
#16
JOURNAL ARTICLE
David Egg, Ina Caroline Rump, Noriko Mitsuiki, Jessica Rojas-Restrepo, Maria-Elena Maccari, Charlotte Schwab, Annemarie Gabrysch, Klaus Warnatz, Sigune Goldacker, Virginia Patiño, Daniel Wolff, Satoshi Okada, Seiichi Hayakawa, Yoshiaki Shikama, Kenji Kanda, Kohsuke Imai, Manabu Sotomatsu, Makoto Kuwashima, Takahiro Kamiya, Tomohiro Morio, Kazuaki Matsumoto, Takeshi Mori, Yuri Yoshimoto, Ingunn Dybedal, Maria Kanariou, Zeynep Yesim Kucuk, Hugo Chapdelaine, Lenka Petruzelkova, Hanns-Martin Lorenz, Kathleen E Sullivan, Jennifer Heimall, Michel Moutschen, Jiri Litzman, Mike Recher, Michael H Albert, Fabian Hauck, Suranjith Seneviratne, Jana Pachlopnik Schmid, Antonios Kolios, Gary Unglik, Christian Klemann, Scott Snapper, Lisa Giulino-Roth, Michael Svaton, Craig D Platt, Sophie Hambleton, Olaf Neth, Geraldine Gosse, Steffen Reinsch, Dirk Holzinger, Yae-Jean Kim, Shahrzad Bakhtiar, Faranaz Atschekzei, Reinhold Schmidt, Georgios Sogkas, Shanmuganathan Chandrakasan, William Rae, Beata Derfalvi, Hanne Vibeke Marquart, Ahmet Ozen, Ayca Kiykim, Elif Karakoc-Aydiner, Pavlína Králíčková, Godelieve de Bree, Dimitra Kiritsi, Markus G Seidel, Robin Kobbe, Jennifer Dantzer, Laia Alsina, Thais Armangue, Vassilios Lougaris, Philipp Agyeman, Sofia Nyström, David Buchbinder, Peter D Arkwright, Bodo Grimbacher
BACKGROUND: Heterozygous germline mutations in cytotoxic T lymphocyte-associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness. OBJECTIVE: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level...
February 2022: Journal of Allergy and Clinical Immunology
#17
JOURNAL ARTICLE
Miriam Groß, Carsten Speckmann, Annette May, Tania Gajardo-Carrasco, Katharina Wustrau, Sarah Lena Maier, Marcus Panning, Daniela Huzly, Abbas Agaimy, Yenan T Bryceson, Sharon Choo, C W Chow, Gregor Dückers, Anders Fasth, Sylvie Fraitag, Katja Gräwe, Sabine Haxelmans, Dirk Holzinger, Ole Hudowenz, Judith Hübschen, Claudia Khurana, Korbinian Kienle, Roman Klifa, Klaus Korn, Heinz Kutzner, Tim Lämmermann, Svea Ledig, Dan Lipsker, Marie Meeths, Nora Naumann-Bartsch, Jelena Rascon, Anne Schänzer, Maximilian Seidl, Bianca Tesi, Christelle Vauloup-Fellous, Beate Vollmer-Kary, Klaus Warnatz, Claudia Wehr, Bénédicte Neven, Pablo Vargas, Fernando E Sepulveda, Kai Lehmberg, Annette Schmitt-Gräff, Stephan Ehl
BACKGROUND: Rubella virus-induced granulomas have been described in patients with various inborn errors of immunity. Most defects impair T-cell immunity, suggesting a critical role of T cells in rubella elimination. However, the molecular mechanism of virus control remains elusive. OBJECTIVE: To understand the defective effector mechanism allowing rubella vaccine virus persistence in granulomas. METHODS: Starting from an index case with Griscelli syndrome type 2 and rubella skin granulomas, we combined an international survey with a literature search to identify patients with cytotoxicity defects and granuloma...
May 22, 2021: Journal of Allergy and Clinical Immunology
#18
JOURNAL ARTICLE
Xuehuan Feng, Andreas Holzinger, Charlotte Permann, Dirk Anderson, Yanbin Yin
Zygnematophyceae green algae (ZGA) have been shown to be the closest relatives of land plants. Three nuclear genomes ( Spirogloea muscicola , Mesotaenium endlicherianum , and Penium margaritaceum ) of ZGA have been recently published, and more genomes are underway. Here we analyzed two Zygnema circumcarinatum strains SAG 698-1a (mating +) and SAG 698-1b (mating -) and found distinct cell sizes and other morphological differences. The molecular identities of the two strains were further investigated by sequencing their 18S rRNA, psaA and rbcL genes...
2021: Frontiers in Plant Science
#19
JOURNAL ARTICLE
Cynthia Medwed, Andreas Holzinger, Stefanie Hofer, Anja Hartmann, Dirk Michalik, Karin Glaser, Ulf Karsten
Single-celled green algae within the Trebouxiophyceae (Chlorophyta) are typical components of terrestrial habitats, which often exhibit harsh environmental conditions for these microorganisms. This study provides a detailed overview of the ecophysiological, biochemical, and ultrastructural traits of an alga living on tree bark. The alga was isolated from a cypress tree in the Botanical Garden of Innsbruck (Austria) and identified by morphology and molecular phylogeny as Diplosphaera chodatii. Transmission electron microscopy after high-pressure freezing (HPF) showed an excellent preservation of the ultrastructure...
February 7, 2021: Protoplasma
#20
JOURNAL ARTICLE
Alexandra Laberko, Vasiliy Burlakov, Sarah Maier, Mario Abinun, Roderick Skinner, Anna Kozlova, Deepti Suri, Kai Lehmberg, Ingo Müller, Dmitry Balashov, Galina Novichkova, Dirk Holzinger, Andrew R Gennery, Anna Shcherbina
BACKGROUND: Proline-serine-threonine phosphatase-interacting protein 1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a novel genetic disorder, causing hypercalprotectinemia and hyperzincemia with inflammatory complications accompanied by cytopenia. Immunosuppressive and/or anticytokine therapy is of limited effect. OBJECTIVES: Because of cytokine production in nonhematopoietic tissues, the potential therapeutic effect of allogeneic hematopoietic stem cell transplantation (HSCT) in autoinflammatory disorders, including PAMI syndrome, has remained uncertain...
December 15, 2020: Journal of Allergy and Clinical Immunology
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