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2. Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia

Author

Saettini, F, Guerra, F, Mauri, M, Salter, C, Adam, M, Adams, D, Baple, E, Barredo, E, Bhatia, S, Borkhardt, A, Brusco, A, Bugarin, C, Chinello, C, Crosby, A, D'Souza, P, Denti, V, Fazio, G, Giuliani, S, Kuehn, H, Amel, H, Elmi, A, Lo, B, Malighetti, F, Mandrile, G, Martín-Nalda, A, Mefford, H, Moratto, D, Emam Mousavi, F, Nelson, Z, Gutiérrez-Solana, L, Macnamara, E, Michaud, V, O'Leary, M, Pagani, L, Pavinato, L, Santamaria, P, Planas-Serra, L, Quadri, M, Raspall-Chaure, M, Rebellato, S, Rosenzweig, S, Roubertie, A, Holzinger, D, Deal, C, Vockley, C, Savino, A, L. Stoddard, J, Uhlig, H, Pujol, A, Magni, F, Paglia, G, Cazzaniga, G, Piazza, R, Barberis, M, Biondi, A, Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Salter, Claire G., Adam, Margaret P., Adams, David, Baple, Emma L., Barredo, Estibaliz, Bhatia, Sanil, Borkhardt, Arndt, Brusco, Alfredo, Bugarin, Cristina, Chinello, Clizia, Crosby, Andrew H., D'Souza, Precilla, Denti, Vanna, Fazio, Grazia, Giuliani, Silvia, Kuehn, Hye Sun, Amel, Hassan, Elmi, Asha, Lo, Bernice, Malighetti, Federica, Mandrile, Giorgia, Martín-Nalda, Andrea, Mefford, Heather C., Moratto, Daniele, Emam Mousavi, Fatemeh, Nelson, Zoe, Gutiérrez-Solana, Luis González, Macnamara, Ellen, Michaud, Vincent, O'Leary, Melanie, Pagani, Lisa, Pavinato, Lisa, Santamaria, Patricia VVelez, Planas-Serra, Laura, Quadri, Manuel, Raspall-Chaure, Miquel, Rebellato, Stefano, Rosenzweig, Sergio D., Roubertie, Agathe, Holzinger, Dirk, Deal, Christin, Vockley, Catherine Walsh, Savino, Angela Maria, L. Stoddard, Jennifer, Uhlig, Holm H., Pujol, Aurora, Magni, Fulvio, Paglia, Giuseppe, Cazzaniga, Gianni, Piazza, Rocco, Barberis, Matteo, Biondi, Andrea, Saettini, F, Guerra, F, Mauri, M, Salter, C, Adam, M, Adams, D, Baple, E, Barredo, E, Bhatia, S, Borkhardt, A, Brusco, A, Bugarin, C, Chinello, C, Crosby, A, D'Souza, P, Denti, V, Fazio, G, Giuliani, S, Kuehn, H, Amel, H, Elmi, A, Lo, B, Malighetti, F, Mandrile, G, Martín-Nalda, A, Mefford, H, Moratto, D, Emam Mousavi, F, Nelson, Z, Gutiérrez-Solana, L, Macnamara, E, Michaud, V, O'Leary, M, Pagani, L, Pavinato, L, Santamaria, P, Planas-Serra, L, Quadri, M, Raspall-Chaure, M, Rebellato, S, Rosenzweig, S, Roubertie, A, Holzinger, D, Deal, C, Vockley, C, Savino, A, L. Stoddard, J, Uhlig, H, Pujol, A, Magni, F, Paglia, G, Cazzaniga, G, Piazza, R, Barberis, M, Biondi, A, Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Salter, Claire G., Adam, Margaret P., Adams, David, Baple, Emma L., Barredo, Estibaliz, Bhatia, Sanil, Borkhardt, Arndt, Brusco, Alfredo, Bugarin, Cristina, Chinello, Clizia, Crosby, Andrew H., D'Souza, Precilla, Denti, Vanna, Fazio, Grazia, Giuliani, Silvia, Kuehn, Hye Sun, Amel, Hassan, Elmi, Asha, Lo, Bernice, Malighetti, Federica, Mandrile, Giorgia, Martín-Nalda, Andrea, Mefford, Heather C., Moratto, Daniele, Emam Mousavi, Fatemeh, Nelson, Zoe, Gutiérrez-Solana, Luis González, Macnamara, Ellen, Michaud, Vincent, O'Leary, Melanie, Pagani, Lisa, Pavinato, Lisa, Santamaria, Patricia VVelez, Planas-Serra, Laura, Quadri, Manuel, Raspall-Chaure, Miquel, Rebellato, Stefano, Rosenzweig, Sergio D., Roubertie, Agathe, Holzinger, Dirk, Deal, Christin, Vockley, Catherine Walsh, Savino, Angela Maria, L. Stoddard, Jennifer, Uhlig, Holm H., Pujol, Aurora, Magni, Fulvio, Paglia, Giuseppe, Cazzaniga, Gianni, Piazza, Rocco, Barberis, Matteo, and Biondi, Andrea

Abstract

Purpose PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus) and gastrointestinal (inflammatory bowel disease and multiple intestinal atresia) manifestations. Although features consistent with immunodeficiency (autoimmunity/autoinflammation and recurrent infections) have been reported in a subset of patients, the burden of B-cell deficiency and hypogammaglobulinemia has not been extensively investigated. We sought to describe the clinical presentation and manifestations of patients with PI4KA-related disorder and to investigate the metabolic consequences of biallelic PI4KA variants in B cells. Methods Clinical data from patients with PI4KA variants were obtained. Multi-omics analyses combining transcriptome, proteome, lipidome and metabolome analyses in conjunction with functional assays were performed in EBV-transformed B cells. Results Clinical and laboratory data of 13 patients were collected. Recurrent infections (7/13), autoimmune/autoinflammatory manifestations (5/13), B-cell deficiency (8/13) and hypogammaglobulinemia (8/13) were frequently observed. Patients' B cells frequently showed increased transitional and decreased switched memory B-cell subsets. Pathway analyses based on differentially expressed transcripts and proteins confirmed the central role of PI4KA in B cell differentiation with altered B-cell receptor (BCR) complex and signalling. By altering lipids production and tricarboxylic acid cycle regulation, and causing increased endoplasmic reticulum stress, biallelic PI4KA mutations disrupt B cell metabolism inducing mitochondrial dysfunction. As a result, B cells show hyperactive PI3K/mTOR pathway, increased autophagy and deranged cytoskeleton organization. Conclusion By altering lipid metabolism and TCA cycle, impairing mitochondrial activity, hyperactivating mTOR pathway and increasing autophagy, PI4KA-related dis

Published
2025

3. Biallelic PI4KA variants cause neurological, intestinal and immunological disease

Author

Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogoli, Andrea, Zara, Frederico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Vockley, Catherine Walsh, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, and Baple, Emma L

Subjects
Digestive Diseases, Pediatric, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Oral and gastrointestinal, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intestinal Atresia, Male, Minor Histocompatibility Antigens, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Polymorphism, Single Nucleotide, Primary Immunodeficiency Diseases, hypomyelinating leukodystrophy, multiple intestinal atresia, PI4KA, FAM126A, TTC7A, PI4KA, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

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. Here we show that biallelic PI4KA sequence alterations in humans are associated with neurological disease, in particular hypomyelinating leukodystrophy. In addition, affected individuals may present with inflammatory bowel disease, multiple intestinal atresia and combined immunodeficiency. Our cellular, biochemical and structural modelling studies indicate that PI4KA-associated phenotypical outcomes probably stem from impairment of PI4KIIIα-TTC7-FAM126's organ-specific functions, due to defective catalytic activity or altered intra-complex functional interactions. Together, these data define PI4KA gene alteration as a cause of a variable phenotypical spectrum and provide fundamental new insight into the combinatorial biology of the PI4KIIIα-FAM126-TTC7-EFR3 molecular complex.

Published
2021

4. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Abinun, Mario, Abrahamsen, Tore G., Albert, Michael H., Almalky, Mohamed, Altaf, Sadaf, Babayeva, Royala, Bakhtiar, Shahrzad, Baris, Safa, Baumann, Ulrich, Becker, Martina, Beier, Rita, Berger, Thomas, Biebl, Ariane, Bielack, Stefan S., Biskup, Saskia, Bode, Sebastian FN, Borchers, Regine, Boztug, Kaan, Brockmann, Knut, Bruwier, Annelyse, Buchholz, Bernd, Caballero-Oteyza, Andres, Cant, Andrew J., Castro, Carla N., Classen, Carl F., Claviez, Alexander, Crazzolara, Roman, Cuntz, Franziska, Dąbrowska-Leonik, Nel, Derichs, Ute, Dückers, Gregor, Eberl, Wolfgang, Ebetsberger-Dachs, Georg, Erlacher, Miriam, Fabre, Alexandre, Faletti, Laura, Farmand, Susan, Figueiredo, Antonio E., Fischer, Marco, Flaadt, Tim, Full, Hermann, Gambineri, Eleonora, Girschick, Hermann, Goldacker, Sigune, Grimbacher, Bodo, Groß, Miriam, Gruhn, Bernd, Haberfellner, Florian, Hague, Rosie, Hauch, Holger, Hauck, Fabian, Heine, Sabine, Huisman, Elise J., Jakovljevic, Gordana, James, Beki, Janda, Ales, Jones, Neil, Kaiser-Labusch, Petra, Kentouche, Karim, Knight, Julian C., Knirsch, Stephanie, Kontny, Udo, Körholz, Julia, Krenn, Thomas, Kuehnle, Ingrid, Kühne, Thomas, Lee-Dimroth, Jae-Yun, Lehmann, Hartwig, Leipold, Alfred, Meinhardt, Andrea, Minkov, Milen, Mönkemöller, Kirsten, Morbach, Henner, Mücke, Urs, Nathrath, Michaela, Naumann-Bartsch, Nora, Neth, Olaf, Niemeyer, Charlotte M., Olbrich, Peter, Ostró, Róbert, Owens, Stephen, Pac, Malgorzata, Pachlopnik Schmid, Jana, Page, Matthew J.T., Pekrun, Arnulf, Prader, Seraina, Proietti, Michele, Rajacic, Nada, Rothoeft, Tobias, Ryan, Clodagh, Salou, Sarah, Salzer, Elisabeth, Savic, Sinisa, Schilling, Freimut H., Schönberger, Stefan, Schuetz, Catharina, Schuez-Havupalo, Linnea, Schulte, Björn, Schulz, Ansgar, Schuster, Volker, Seidel, Markus G., Siepermann, Kathrin, Skomska-Pawliszak, Malgorzata, Smisek, Petr, Soomann, Maarja, Stiefel, Martina, Storck, Simone, Strahm, Brigitte, Streiter, Monika, Teltschik, Heiko-Manuel, Thalhammer, Julian, Tippelt, Stephan, Toskov, Vasil, Trück, Johannes, Vieth, Simon, von Bismarck, Philipp, Wegehaupt, Oliver, Wiesel, Thomas, Wittkowski, Helmut, Yalcin Gungoren, Ezgi, Hägele, Pauline, Staus, Paulina, Scheible, Raphael, Uhlmann, Annette, Heeg, Maximilian, Klemann, Christian, Maccari, Maria Elena, Ritterbusch, Henrike, Armstrong, Martin, Cutcutache, Ioana, Elliott, Katherine S, von Bernuth, Horst, Leahy, Timothy Ronan, Leyh, Jörg, Holzinger, Dirk, Lehmberg, Kai, Svec, Peter, Masjosthusmann, Katja, Hambleton, Sophie, Jakob, Marcus, Sparber-Sauer, Monika, Kager, Leo, Puzik, Alexander, Wolkewitz, Martin, Lorenz, Myriam Ricarda, Schwarz, Klaus, Speckmann, Carsten, Rensing-Ehl, Anne, and Ehl, Stephan

Published
2024
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5. Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing

Author

Rensing-Ehl, Anne, Lorenz, Myriam Ricarda, Führer, Marita, Willenbacher, Wolfgang, Willenbacher, Ella, Sopper, Sieghart, Abinun, Mario, Maccari, Maria Elena, König, Christoph, Haegele, Pauline, Fuchs, Sebastian, Castro, Carla, Kury, Patrick, Pelle, Olivier, Klemann, Christian, Heeg, Maximilian, Thalhammer, Julian, Wegehaupt, Oliver, Fischer, Marco, Goldacker, Sigune, Schulte, Björn, Biskup, Saskia, Chatelain, Philippe, Schuster, Volker, Warnatz, Klaus, Grimbacher, Bodo, Meinhardt, Andrea, Holzinger, Dirk, Oommen, Prasad Thomas, Hinze, Tanja, Hebart, Holger, Seeger, Karlheinz, Lehmberg, Kai, Leahy, Timothy Ronan, Claviez, Alexander, Vieth, Simon, Schilling, Freimut H., Fuchs, Ilka, Groß, Miriam, Rieux-Laucat, Frederic, Magerus, Aude, Speckmann, Carsten, Schwarz, Klaus, and Ehl, Stephan

Published
2024
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6. A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS.

Author

Maccari, Maria, Fuchs, Sebastian, Kury, Patrick, Andrieux, Geoffroy, Völkl, Simon, Bengsch, Bertram, Lorenz, Myriam, Heeg, Maximilian, Rohr, Jan, Jägle, Sabine, Castro, Carla, Groß, Miriam, Warthorst, Ursula, König, Christoph, Fuchs, Ilka, Speckmann, Carsten, Thalhammer, Julian, Kapp, Friedrich, Seidel, Markus, Dückers, Gregor, Schönberger, Stefan, Schütz, Catharina, Führer, Marita, Kobbe, Robin, Holzinger, Dirk, Klemann, Christian, Smisek, Petr, Owens, Stephen, Horneff, Gerd, Kolb, Reinhard, Naumann-Bartsch, Nora, Miano, Maurizio, Staniek, Julian, Rizzi, Marta, Kalina, Tomas, Schneider, Pascal, Erxleben, Anika, Backofen, Rolf, Ekici, Arif, Niemeyer, Charlotte, Warnatz, Klaus, Grimbacher, Bodo, Eibel, Hermann, Mackensen, Andreas, Frei, Andreas, Schwarz, Klaus, Boerries, Melanie, Ehl, Stephan, and Rensing-Ehl, Anne

Subjects
ADP-ribosyl Cyclase 1, Adolescent, Adult, Aged, CD4-Positive T-Lymphocytes, CD8-Positive T-Lymphocytes, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Leukocyte Common Antigens, Lymphocyte Activation, Lymphoproliferative Disorders, Male, Middle Aged, Signal Transduction, Young Adult, fas Receptor
Abstract

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 population of FAS-controlled TCRαβ+ T cells. They include CD4+, CD8+, and double-negative T cells and can be defined by a CD38+CD45RA+T-BET- expression pattern. These unconventional T cells are present in healthy individuals, are generated before birth, are enriched in lymphoid tissue, and do not expand during acute viral infection. They are characterized by a unique molecular signature that is unambiguously different from other known T cell differentiation subsets and independent of CD4 or CD8 expression. Functionally, FAS-controlled T cells represent highly proliferative, noncytotoxic T cells with an IL-10 cytokine bias. Mechanistically, regulation of this physiological population is mediated by FAS and CTLA4 signaling, and its survival is enhanced by mTOR and STAT3 signals. Genetic alterations in these pathways result in expansion of FAS-controlled T cells, which can cause significant lymphoproliferative disease.

Published
2021

7. A novel serum calprotectin (MRP8/14) particle-enhanced immuno-turbidimetric assay (sCAL turbo) helps to differentiate systemic juvenile idiopathic arthritis from other diseases in routine clinical laboratory settings

Author

Foell, Dirk, Saers, Melanie, Park, Carolin, Brix, Ninna, Glerup, Mia, Kessel, Christoph, Wittkowski, Helmut, Hinze, Claas, Berntson, Lillemor, Fasth, Anders, Myrup, Charlotte, Nordal, Ellen, Rygg, Marite, Hasle, Henrik, Albertsen, Birgitte Klug, Herlin, Troels, Holzinger, Dirk, Niederberger, Christian, and Schlüter, Bernhard

Published
2023
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12. Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency.

Author

Trombello, Sophia, Jarisch, Andrea, Willasch, Andre, Rettinger, Eva, Fekadu-Siebald, Julia, Holzinger, Dirk, Adelmann, Roland, Bader, Peter, and Bakhtiar, Shahrzad

Subjects
GUANINE nucleotide exchange factors, HEMATOPOIETIC stem cell transplantation, JOB'S syndrome, OLDER patients, ATOPIC dermatitis
Abstract

Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency (CID) due to biallelic mutations in the gene encoding DOCK8. Major clinical phenomena are recurrent severe infections of the lungs and skin, atopic eczema, and predisposition to malignancy leading to a poor prognosis. Typical findings include highly elevated IgE and eosinophilia. Allogeneic hematopoietic stem cell transplantation (alloHSCT) is indicated as the only curative treatment option. We present a patient with advanced disease undergoing alloHSCT at the age of 11 years after individualized pre-treatment using dupilumab and rituximab resulting in a decrease in IgE levels and clinical improvement of the skin condition. Additionally, in a review of the literature, we summarize morbidity and outcome in DOCK8-deficient patients older than 8 years of age receiving alloHSCT. Life-threatening infections, malignancy, and disease-related complications with organ damage pre-transplant are challenging in older DOCK8-deficient patients. The therapeutic role of dupilumab in DOCK8 deficiency should be evaluated in larger studies. [ABSTRACT FROM AUTHOR]

Published
2025
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14. Therapeutic options for CTLA-4 insufficiency

Author

Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, Maria-Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns-Martin, Sullivan, Kathleen E., Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae-Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofia, Buchbinder, David, Arkwright, Peter D., and Grimbacher, Bodo

Published
2022
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15. Rubella vaccine–induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity

Author

Groß, Miriam, Speckmann, Carsten, May, Annette, Gajardo-Carrasco, Tania, Wustrau, Katharina, Maier, Sarah Lena, Panning, Marcus, Huzly, Daniela, Agaimy, Abbas, Bryceson, Yenan T., Choo, Sharon, Chow, C.W., Dückers, Gregor, Fasth, Anders, Fraitag, Sylvie, Gräwe, Katja, Haxelmans, Sabine, Holzinger, Dirk, Hudowenz, Ole, Hübschen, Judith M., Khurana, Claudia, Kienle, Korbinian, Klifa, Roman, Korn, Klaus, Kutzner, Heinz, Lämmermann, Tim, Ledig, Svea, Lipsker, Dan, Meeths, Marie, Naumann-Bartsch, Nora, Rascon, Jelena, Schänzer, Anne, Seidl, Maximilian, Tesi, Bianca, Vauloup-Fellous, Christelle, Vollmer-Kary, Beate, Warnatz, Klaus, Wehr, Claudia, Neven, Bénédicte, Vargas, Pablo, Sepulveda, Fernando E., Lehmberg, Kai, Schmitt-Graeff, Annette, and Ehl, Stephan

Published
2022
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16. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan

Published
2021
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17. Definition and validation of serum biomarkers for optimal differentiation of hyperferritinaemic cytokine storm conditions in children: a retrospective cohort study

Author

Kessel, Christoph, Fall, Ndate, Grom, Alexei, de Jager, Wilco, Vastert, Sebastiaan, Strippoli, Raffaele, Bracaglia, Claudia, Sundberg, Erik, Horne, AnnaCarin, Ehl, Stephan, Ammann, Sandra, Wouters, Carine, Lehmberg, Kai, De Benedetti, Fabrizio, Park, Carolin, Hinze, Claas, Wittkowski, Helmut, Kessel, Katharina, Beutel, Karin, Foell, Dirk, and Holzinger, Dirk

Published
2021
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23. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Author

Ghosh, Sujal, Köstel Bal, Sevgi, Edwards, Emily S.J., Pillay, Bethany, Jiménez Heredia, Raúl, Erol Cipe, Funda, Rao, Geetha, Salzer, Elisabeth, Zoghi, Samaneh, Abolhassani, Hassan, Momen, Tooba, Gostick, Emma, Price, David A., Zhang, Yu, Oler, Andrew J., Gonzaga-Jauregui, Claudia, Erman, Baran, Metin, Ayse, Ilhan, Inci, Haskologlu, Sule, Islamoglu, Candan, Baskin, Kubra, Ceylaner, Serdar, Yilmaz, Ebru, Unal, Ekrem, Karakukcu, Musa, Berghuis, Dagmar, Cole, Theresa, Gupta, Aditya K., Hauck, Fabian, Kogler, Hubert, Hoepelman, Andy I.M., Baris, Safa, Karakoc-Aydiner, Elif, Ozen, Ahmet, Kager, Leo, Holzinger, Dirk, Paulussen, Michael, Krüger, Renate, Meisel, Roland, Oommen, Prasad T., Morris, Emma, Neven, Benedicte, Worth, Austen, van Montfrans, Joris, Fraaij, Pieter L.A., Choo, Sharon, Dogu, Figen, Davies, E. Graham, Burns, Siobhan, Dückers, Gregor, Becker, Ruy Perez, von Bernuth, Horst, Latour, Sylvain, Faraci, Maura, Gattorno, Marco, Su, Helen C., Pan-Hammarström, Qiang, Hammarström, Lennart, Lenardo, Michael J., Ma, Cindy S., Niehues, Tim, Aghamohammadi, Asghar, Rezaei, Nima, Ikinciogullari, Aydan, Tangye, Stuart G., Lankester, Arjan C., and Boztug, Kaan

Published
2020
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24. CD163 expression defines specific, IRF8-dependent, immune-modulatory macrophages in the bone marrow

Author

Fischer-Riepe, Lena, Daber, Niklas, Schulte-Schrepping, Jonas, Véras De Carvalho, Bruna Caroline, Russo, Antonella, Pohlen, Michele, Fischer, Josephine, Chasan, Achmet Imam, Wolf, Marc, Ulas, Thomas, Glander, Shirin, Schulz, Christian, Skryabin, Boris, Wollbrink, Dipl-Ing, Andreas, Steingraeber, Nadine, Stremmel, Christopher, Koehle, Megan, Gärtner, Florian, Vettorazzi, Sabine, Holzinger, Dirk, Gross, Joachim, Rosenbauer, Frank, Stoll, Monika, Niemann, Silke, Tuckermann, Jan, Schultze, Joachim L., Roth, Johannes, and Barczyk-Kahlert, Katarzyna

Published
2020
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25. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Author

Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Ashford, Sofie, Astle, William J., Attwood, Anthony, Bacchelli, Chiara, Batista, Joana, Baxendale, Helen E., Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boardman, Barbara, Booth, Claire, Bradley, John R., Breen, Gerome, Brown, Matthew, Browning, Michael J., Brownlie, Mary, Buckland, Matthew S., Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Chandra, Anita, Brod, Naomi Clements, Clifford, Hayley, Cooper, Nichola, Daugherty, Louise C., Davies, E.G., Davies, Sophie, Davis, John, Deacock, Sarah, Deevi, Sri V.V., Dempster, John, Devlin, Lisa A., Dewhurst, Eleanor F., Downes, Kate, Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Edwards, Karen, Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fletcher, Debra, Fox, James, Frary, Amy J., Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Ghurye, Rohit, Gilmour, Kimberly C., Gleadall, Nicholas S., Goddard, Sarah, Gordins, Pavels, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Hu, Fengyuan, Hughes, Stephen, Huissoon, Aarnoud P., James, Roger, Jolles, Stephen, Jolley, Jennifer, Jones, Julie, Karim, Yousuf, Kasanicki, Mary A., Kelleher, Peter, Kempster, Carly, Kiani, Sorena, Kingston, Nathalie, Klein, Nigel, Kostadima, Myrto, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Laffan, James, Allen, Hana Lango, Lear, Sara E., Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Lyons, Paul A., Maimaris, Jesmeen, Manson, Ania, Mapeta, Rutendo, Martin, Jennifer, McCarthy, Mark I., McDermott, Elizabeth M., McKinney, Harriet, Meacham, Stuart, Megy, Karyn, Millar, Hazel, Mistry, Anoop, Morrisson, Valerie, Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Penkett, Christopher J., Petersen, Romina, Ponsford, Mark J., Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raymond, F. Lucy, Rayner-Matthews, Paula J., Richter, Alex, Samani, Nilesh, Samarghitean, Crina, Sanchis-Juan, Alba, Sargur, Ravishankar B., Savic, Sinisa, Seneviratne, Suranjith L., Sewell, W.A. Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Simeoni, Ilenia, Simpson, Michael A., Smith, Kenneth G.C., Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stephens, Jonathan, Stirrups, Kathleen E., Thaventhiran, James E., Thomas, David, Thomas, Moira J., Thomas, Patrick, Thrasher, Adrian J., Tilly, Tobias, Titterton, Catherine, Treadaway, Paul, Tuna, Salih, Turro, Ernest, Urniaz, Rafal, von Ziegenweidt, Julie, Walker, Neil, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Willcocks, Lisa, Wood, Nicholas, Wood, Yvette, Workman, Sarita, Worth, Austen, Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Zlamalova, Eliska, Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Frede, Natalie, Proietti, Michele, Bulashevska, Alla, Camacho-Ordonez, Nadezhda, Varjosalo, Markku, Kinnunen, Matias, de Vries, Esther, van der Meer, Jos W.M., Ameratunga, Rohan, Roifman, Chaim M., Schejter, Yael D., Kobbe, Robin, Hautala, Timo, Atschekzei, Faranaz, Schmidt, Reinhold E., Schröder, Claudia, Stepensky, Polina, Shadur, Bella, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Gonzalez-Granado, Luis Ignacio, Allende, Luis M., Shcherbina, Anna, Kuzmenko, Natalia, Zakharova, Victoria, Neves, João Farela, Svec, Peter, Fischer, Ute, Ip, Winnie, Bartsch, Oliver, Barış, Safa, Klein, Christoph, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Boztug, Kaan, Hirschmugl, Tatjana, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Alsina, Laia, Piquer-Gibert, Monica, Deyà-Martínez, Angela, Slade, Charlotte A., Aghamohammadi, Asghar, Abolhassani, Hassan, Hammarström, Lennart, Kuismin, Outi, Helminen, Merja, Freeman, Alexandra F., Cook, Matthew, Bakhtiar, Shahrzad, Christiansen, Mette, Cunningham-Rundles, Charlotte, Patel, Niraj C., Rae, William, Niehues, Tim, Brauer, Nina, Syrjänen, Jaana, Seppänen, Mikko R.J., Tuijnenburg, Paul, Warnatz, Klaus, and Grimbacher, Bodo

Published
2020
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29. Phenotypic variability and disparities in treatment and outcomes of childhood arthritis throughout the world: an observational cohort study

Author

Abdwani, Reem, Aghighi, Yahya, Aiche, Maya-Feriel, Ailioaie, Constantin, Aktay Ayaz, Nuray, Al-Abrawi, Safiya, Alexeeva, Ekaterina, Anton, Jordi, Apostol, Adriana, Arguedas, Olga, Avcin, Tadej, Barone, Patrizia, Berntson, Lillemor, Boteanu, Alina Lucica, Boyko, Yaryna, Burgos-Vargas, Ruben, Calvo Penades, Inmaculada, Chédeville, Gaëlle, Cimaz, Rolando, Civino, Adele, Consolini, Rita, Constantin, Tamas, Cuttica, Ruben, Dallos, Tomas, Martin, Neil, Magni Manzoni, Silvia, De Cunto, Carmen, Dolezalova, Pavla, Ekelund, Maria, El Miedany, Yasser, Espada, Graciela, Estmann Christensen, Anne, Foeldvari, Ivan, Gallizzi, Romina, Ganser, Gerd, Gerloni, Valeria, Haas, Johannes-Peter, Harel, Liora, Harjacek, Miroslav, Hashad, Soad, Herlin, Troels, Herrera, Cristina, Hofer, Michael, Holzinger, Dirk, Horneff, Gerd, Huppertz, Hans-Iko, Iagăru, Nicolae, Ibanez Estrella, Amparo, Ioseliani, Maka, Joos, Rik, Knupp Oliveira, Sheila, Kamphuis, Sylvia, Kasapcopur, Ozgur, Katsicas, Maria Martha, Khubchandani, Raju, Kondi, Anuela, Kröger, Liisa, La Torre, Francesco, Laday, Matilda, Lahdenne, Pekka, Maggio, Maria Cristina, Magnolia, Maria Greca, Malagon, Clara, Malin, Merja, Martino, Silvana, Melo-Gomes, Jose Antonio, Mesa-del-Castillo, Pablo, Militaru, Andrea, Minden, Kirsten, Miniaci, Angela, Moradinejad, Mohammad Hasan, Morel Ayala, Zoilo, Nikishina, Irina, Norambuena, Ximena, Nordal, Ellen Berit, Pagava, Karaman, Panaviene, Violeta, Pastore, Serena, Pieropan, Sara, Podda, Rosa Anna, Pruunsild, Chris, Putto-Laurila, Anne, Quartier, Pierre, Remesal, Agustin, Rigante, Donato, Ringold, Sarah, Rutkowska-Sak, Lidia, Rygg, Marite, Saurenmann, Rotraud Katharina, Sawhney, Sujata, Scott, Christiaan, Shiari, Reza, Smolewska, Elzbieta, Sozeri, Betul, Swart, Joost Frans, Sztajnbok, Flavio, Torcoletti, Marta, Tsitsami, Elena, Tzaribachev, Nikolay, Unsal, Erbil, Uziel, Yosef, Vähäsalo, Paula, Varbanova, Boriana, Vargova, Veronika, Vesely, Richard, Vijatov-Djuric, Gordana, Vilaiyuk, Soamarat, Vojinovic, Jelena, Vougiouka, Olga, Weiss, Pamela, Wouters, Carine, Consolaro, Alessandro, Giancane, Gabriella, Alongi, Alessandra, van Dijkhuizen, Evert Hendrik Pieter, Aggarwal, Amita, Al-Mayouf, Sulaiman M, Bovis, Francesca, De Inocencio, Jaime, Demirkaya, Erkan, Flato, Berit, Foell, Dirk, Garay, Stella Maris, Lazăr, Călin, Lovell, Daniel J, Montobbio, Carolina, Miettunen, Paivi, Mihaylova, Dimitrina, Nielsen, Susan, Orban, Ilonka, Rumba-Rozenfelde, Ingrida, Magalhães, Claudia Saad, Shafaie, Nahid, Susic, Gordana, Trachana, Maria, Wulffraat, Nico, Pistorio, Angela, Martini, Alberto, Ruperto, Nicolino, and Ravelli, Angelo

Published
2019
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31. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Hägele, Pauline, primary, Staus, Paulina, additional, Scheible, Raphael, additional, Uhlmann, Annette, additional, Heeg, Maximilian, additional, Klemann, Christian, additional, Maccari, Maria Elena, additional, Ritterbusch, Henrike, additional, Armstrong, Martin, additional, Cutcutache, Ioana, additional, Elliott, Katherine S, additional, von Bernuth, Horst, additional, Leahy, Timothy Ronan, additional, Leyh, Jörg, additional, Holzinger, Dirk, additional, Lehmberg, Kai, additional, Svec, Peter, additional, Masjosthusmann, Katja, additional, Hambleton, Sophie, additional, Jakob, Marcus, additional, Sparber-Sauer, Monika, additional, Kager, Leo, additional, Puzik, Alexander, additional, Wolkewitz, Martin, additional, Lorenz, Myriam Ricarda, additional, Schwarz, Klaus, additional, Speckmann, Carsten, additional, Rensing-Ehl, Anne, additional, Ehl, Stephan, additional, Abinun, Mario, additional, Abrahamsen, Tore, additional, Albert, Michael, additional, Almalky, Mohamed, additional, Altaf, Sadaf, additional, Babayeva, Royala, additional, Bakhtiar, Shahrzad, additional, Baris, Safa, additional, Baumann, Ulrich, additional, Becker, Martina, additional, Berger, Thomas, additional, Biebl, Ariane, additional, Bielack, Stefan, additional, Biskup, Saskia, additional, Bismarck, Philipp, additional, Bode, Sebastian, additional, Borchers, Regine, additional, Boztug, Carl Friedrich, additional, Brockmann, Knut, additional, Bruwier, Annelyse, additional, Buchholz, Bernd, additional, Cant, Andrew, additional, Castro, Carla N, additional, Classen, Carl, additional, Claviez, Alexander, additional, Crazzolara, Roman, additional, Cuntz, Franziska, additional, Dąbrowska-Leonik, Nel, additional, Derichs, Ute, additional, Dückers, Gregor, additional, Eberl, Wolfgang, additional, Ebetsberger-Dachs, Georg, additional, Erlacher, Miriam, additional, Fabre, Alexandre, additional, Faletti, Laura, additional, Farmand, Susan, additional, Figueiredo, Antonio, additional, Fischer, Marco, additional, Flaadt, Tim, additional, Full, Hermann, additional, Gambineri, Eleonora, additional, Girschick, Hermann, additional, Goldacker, Sigune, additional, Grimbacher, Bodo, additional, Groß, Miriam, additional, Gruhn, Andrew J, additional, Gungoren, Ezgi, additional, Haberfellner, Florian, additional, Hague, Rosie, additional, Hauch, Holger, additional, Hauck, Fabian, additional, Heine, Sabine, additional, Huisman, Elise, additional, Jakovljevic, Gordana, additional, James, Beki, additional, Janda, Ales, additional, Janda, Małgorzata, additional, Jones, Neil, additional, Kaiser-Labusch, Petra, additional, Kentouche, Karim, additional, Knight, Julian, additional, Knirsch, Stephanie, additional, Kontny, Udo, additional, Körholz, Julia, additional, Krenn, Ezgi Yalcin, additional, Kuehnle, Ingrid, additional, Kühne, Thomas, additional, Lee-Dimroth, Jae-Yun, additional, Lehmann, Hartwig, additional, Leipold, Michael H., additional, Meinhardt, Andrea, additional, Mönkemöller, Kirsten, additional, Morbach, Henner, additional, Mücke, Urs, additional, Nathrath, Michaela, additional, Naumann-Bartsch, Nora, additional, Neth, Olaf, additional, Niemeyer, Charlotte, additional, Olbrich, Peter, additional, Ostró, Róbert, additional, Owens, Stephen, additional, Pac, Malgorzata, additional, Pachlopnik Schmid, Rita, additional, Page, Markus G., additional, Pekrun, Arnulf, additional, Prader, Seraina, additional, Proietti, Michele, additional, Rajacic, Nada, additional, Rothoeft, Tobias, additional, Ryan, Freimut H., additional, Salou, Sarah, additional, Salzer, Elisabeth, additional, Savic, Sinisa, additional, Schilling, Antonio E., additional, Schmid, Jana, additional, Schönberger, Stefan, additional, Schuetz, Catharina, additional, Schuez-Havupalo, Tore G., additional, Schulte, Björn, additional, Schulz, Ansgar, additional, Schuster, Volker, additional, Seidel, Markus, additional, Siepermann, Kathrin, additional, Smisek, Petr, additional, Soomann, Maarja, additional, Stiefel, Martina, additional, Storck, Simone, additional, Strahm, Brigitte, additional, Streiter, Elise J, additional, Teltschik, Charlotte M., additional, Thalhammer, Julian, additional, Tippelt, Stephan, additional, Toskov, Vasil, additional, Trück, Johannes, additional, Vieth, Simon, additional, Wegehaupt, Oliver, additional, and Wiesel, Thomas, additional

Published
2024
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38. The German version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

Author

Holzinger, Dirk, Foell, Dirk, Horneff, Gerd, Foeldvari, Ivan, Tzaribachev, Nikolay, Tzaribachev, Catrin, Minden, Kirsten, Kallinich, Tilmann, Ganser, Gerd, Clara, Lucia, Haas, Johannes-Peter, Hügle, Boris, Huppertz, Hans-Iko, Weller, Frank, Consolaro, Alessandro, Bovis, Francesca, Ruperto, Nicolino, and For the Paediatric Rheumatology International Trials Organisation (PRINTO)

Published
2018
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39. A novel serum calprotectin (MRP8/14) particle enhanced immuno-turbidimetric assay (sCAL turbo) helps to differentiate systemic juvenile idiopathic arthritis from other diseases in routine clinical laboratory settings

Author

Foell, Dirk, primary, Saers, Melanie, additional, Park, Carolin, additional, Brix, Ninna, additional, Glerup, Mia, additional, Kessel, Christoph, additional, Wittkowski, Helmut, additional, Hinze, Claas, additional, Berntson, Lillemor, additional, Fasth, Anders, additional, Myrup, Charlotte, additional, Nordal, Ellen, additional, Rygg, Marite, additional, Hasle, Henrik, additional, Albertsen, Brigitte Klug, additional, Herlin, Troels, additional, Holzinger, Dirk, additional, Niederberger, Christian, additional, and Schlüter, Bernhard, additional

Published
2023
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42. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases

Author

Holzinger, Dirk, Fassl, Selina Kathleen, de Jager, Wilco, Lohse, Peter, Röhrig, Ute F., Gattorno, Marco, Omenetti, Alessia, Chiesa, Sabrina, Schena, Francesca, Austermann, Judith, Vogl, Thomas, Kuhns, Douglas B., Holland, Steven M., Rodríguez-Gallego, Carlos, López-Almaraz, Ricardo, Arostegui, Juan I., Colino, Elena, Roldan, Rosa, Fessatou, Smaragdi, Isidor, Bertrand, Poignant, Sylvaine, Ito, Koichi, Epple, Hans-Joerg, Bernstein, Jonathan A., Jeng, Michael, Frankovich, Jennifer, Lionetti, Geraldina, Church, Joseph A., Ong, Peck Y., LaPlant, Mona, Abinun, Mario, Skinner, Rod, Bigley, Venetia, Sachs, Ulrich J., Hinze, Claas, Hoppenreijs, Esther, Ehrchen, Jan, Foell, Dirk, Chae, Jae Jin, Ombrello, Amanda, Aksentijevich, Ivona, Sunderkoetter, Cord, and Roth, Johannes

Published
2015
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43. Aberrant Naive CD4 –Positive T Cell Differentiation in Systemic Juvenile Idiopathic Arthritis Committed to B Cell Help

Author

Kuehn, Julia, primary, Schleifenbaum, Susanne, additional, Hendling, Michaela, additional, Siebenhandl, Sandra, additional, Krainer, Julie, additional, Fuehner, Sabrina, additional, Hellige, Antje, additional, Park, Carolin, additional, Hinze, Claas, additional, Wittkowski, Helmut, additional, Holzinger, Dirk, additional, Thurner, Lorenz, additional, Weinhäusel, Andreas, additional, Foell, Dirk, additional, and Kessel, Christoph, additional

Published
2023
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44. Serum S100 Proteins as a Marker of Disease Activity in Large Vessel Vasculitis

Author

Springer, Jason Michael, Monach, Paul, Cuthbertson, David, Carette, Simon, Khalidi, Nader A., McAlear, Carol A., Pagnoux, Christian, Seo, Philip, Warrington, Kenneth J., Ytterberg, Steven R., Hoffman, Gary, Langford, Carol, Hamilton, Thomas, Foell, Dirk, Vogl, Thomas, Holzinger, Dirk, Merkel, Peter A., Roth, Johannes, and Hajj-Ali, Rula A.

Published
2018
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47. Update of evidence- and consensus-based guidelines for the treatment of juvenile idiopathic arthritis (JIA) by the German Society of Pediatric and Juvenile Rheumatic Diseases (GKJR): New perspectives on interdisciplinary care

Author

Oommen, Prasad T., primary, Strauss, Timmy, additional, Baltruschat, Karen, additional, Foeldvari, Ivan, additional, Deuter, Christoph, additional, Ganser, Gerd, additional, Haas, Johannes-Peter, additional, Hinze, Claas, additional, Holzinger, Dirk, additional, Hospach, Anton, additional, Huppertz, Hans-Iko, additional, Illhardt, Arnold, additional, Jung, Michael, additional, Kallinich, Tilmann, additional, Klein, Ariane, additional, Minden, Kirsten, additional, Mönkemöller, Kirsten, additional, Mrusek, Sonja, additional, Neudorf, Ulrich, additional, Dückers, Gregor, additional, Niehues, Tim, additional, Schneider, Matthias, additional, Schoof, Philipp, additional, Thon, Angelika, additional, Wachowsky, Michael, additional, Wagner, Norbert, additional, Bloedt, Susanne, additional, Hofer, Michaël, additional, Tenbrock, Klaus, additional, and Schuetz, Catharina, additional

Published
2022
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48. Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation

Author

Moser, Laura M., primary, Fekadu, Julia, additional, Willasch, André, additional, Rettinger, Eva, additional, Sörensen, Jan, additional, Jarisch, Andrea, additional, Kirwil, Marta, additional, Lieb, Adrian, additional, Holzinger, Dirk, additional, Calaminus, Gabriele, additional, Bader, Peter, additional, and Bakhtiar, Shahrzad, additional

Published
2022
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49. Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

Author

Wan, Rensheng, primary, Fänder, Johannes, additional, Zakaraia, Ia, additional, Lee-Kirsch, Min Ae, additional, Wolf, Christine, additional, Lucas, Nadja, additional, Olfe, Lisa Isabel, additional, Hendrich, Corinna, additional, Jonigk, Danny, additional, Holzinger, Dirk, additional, Steindor, Mathis, additional, Schmidt, Gunnar, additional, Davenport, Claudia, additional, Klemann, Christian, additional, Schwerk, Nicolaus, additional, Griese, Matthias, additional, Schlegelberger, Brigitte, additional, Stehling, Florian, additional, Happle, Christine, additional, Auber, Bernd, additional, Steinemann, Doris, additional, Wetzke, Martin, additional, and von Hardenberg, Sandra, additional

Published
2022
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