Search Results - "NOTHEIS, GUNDULA"

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia by McCarl, Christie-Ann, BS, Picard, Capucine, MD, PhD, Khalil, Sara, BS, Kawasaki, Takumi, PhD, Röther, Jens, Papolos, Alexander, BS, Kutok, Jeffery, MD, Hivroz, Claire, PhD, LeDeist, Francoise, MD, PhD, Plogmann, Katrin, DMD, Ehl, Stephan, MD, Notheis, Gundula, MD, Albert, Michael H., MD, Belohradsky, Bernd H., MD, Kirschner, Janbernd, MD, Rao, Anjana, PhD, Fischer, Alain, MD, Feske, Stefan, MD

“…Background Defects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation…”
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Common Variable Immunodeficiency Disorders in Children: Delayed Diagnosis Despite Typical Clinical Presentation by Urschel, Simon, MD, Kayikci, Lale, MD, Wintergerst, Uwe, MD, Notheis, Gundula, MD, Jansson, Annette, MD, Belohradsky, Bernd H., MD

“…Objective To characterize common variable immunodeficiency disorder (CVID) in childhood. Study design We retrospectively investigated clinical findings in 32…”
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Successful Combination of Sequential Gene Therapy and Rescue Allo-HSCT in Two Children with X-CGD - Importance of Timing by Siler, Ulrich, Paruzynski, Anna, Holtgreve-Grez, Heidi, Kuzmenko, Elena, Koehl, Ulrike, Renner, Eleonore D, Alhan, Canan, de Loosdrecht, Arjan A van, Schwäble, Joachim, Pfluger, Thomas, Tchinda, Joelle, Schmugge, Markus, Jauch, Anna, Naundorf, Sonja, Kühlcke, Klaus, Notheis, Gundula, Güngor, Tayfun, Kalle, Christof V, Schmidt, Manfred, Grez, Manuel, Seger, Reinhard, Reichenbach, Janine

“…We report on a series of sequential events leading to long-term survival and cure of pediatric X-linked chronic granulomatous disease (X-CGD) patients after…”
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A structured patient empowerment programme for primary immunodeficiency significantly improves general and health-related quality of life by Fasshauer, Maria, Schuermann, Gesine, Gebert, Norbert, von Bernuth, Horst, Goldacker, Sigune, Krueger, Renate, Manzey, Petra, Notheis, Gundula, Ritterbusch, Henrike, Schauer, Uwe, Schulze, Ilka, Umlauf, Volker, Widmann, Steffi, Baumann, Ulrich

“…Primary immunodeficiencies (PIDs) are a heterogeneous group of rare diseases characterized by increased susceptibility to infections and a reduced quality of…”
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Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry by Zeidler, Cornelia, Grote, Ulrike A H, Nickel, Anna, Brand, Beate, Carlsson, Göran, Cortesão, Emília, Dufour, Carlo, Duhem, Caroline, Notheis, Gundula, Papadaki, Helen A, Tamary, Hannah, Tjønnfjord, Geir E, Tucci, Fabio, Van Droogenbroeck, Jan, Vermylen, Christiane, Voglova, Jaroslava, Xicoy, Blanca, Welte, Karl

“…Long-term granulocyte-colony stimulating factor treatment has been shown to be safe and effective in severe chronic neutropenia patients. However, data on its…”
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Dysregulation of innate immune receptors on neutrophils in chronic granulomatous disease by Hartl, Dominik, MD, Lehmann, Natalie, MD, Hoffmann, Florian, MD, Jansson, Annette, MD, Hector, Andreas, Notheis, Gundula, MD, Roos, Dirk, PhD, Belohradsky, Bernd H., MD, Wintergerst, Uwe, MD

“…Background Chronic granulomatous disease (CGD) is the most common inherited disorder of neutrophil function, is caused by mutations in the reduced nicotinamide…”
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Long‐term posaconazole treatment and follow‐up of rhino‐orbital‐cerebral mucormycosis in a diabetic girl by Tarani, Luigi, Costantino, Francesco, Notheis, Gundula, Wintergerst, Uwe, Venditti, Mario, Di Biasi, Claudio, Friederici, Donata, Pasquino, Anna Maria

“…:  To demonstrate that the 2‐yr clinical follow‐up of our patient strongly suggests that long‐term therapy with posaconazole (POS) is safe and beneficial in…”
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DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients by Aydin, Susanne E., Kilic, Sara Sebnem, Aytekin, Caner, Kumar, Ashish, Porras, Oscar, Kainulainen, Leena, Kostyuchenko, Larysa, Genel, Ferah, Kütükcüler, Necil, Karaca, Neslihan, Gonzalez-Granado, Luis, Abbott, Jordan, Al-Zahrani, Daifulah, Rezaei, Nima, Baz, Zeina, Thiel, Jens, Ehl, Stephan, Marodi, László, Orange, Jordan S., Sawalle-Belohradsky, Julie, Keles, Sevgi, Holland, Steven M., Sanal, Özden, Ayvaz, Deniz C., Tezcan, Ilhan, Al-Mousa, Hamoud, Alsum, Zobaida, Hawwari, Abbas, Metin, Ayse, Matthes-Martin, Susanne, Hönig, Manfred, Schulz, Ansgar, Picard, Capucine, Barlogis, Vincent, Gennery, Andrew, Ifversen, Marianne, van Montfrans, Joris, Kuijpers, Taco, Bredius, Robbert, Dückers, Gregor, Al-Herz, Waleed, Pai, Sung-Yun, Geha, Raif, Notheis, Gundula, Schwarze, Carl-Philipp, Tavil, Betül, Azik, Fatih, Bienemann, Kirsten, Grimbacher, Bodo, Heinz, Valerie, Gaspar, H. Bobby, Aydin, Roland, Hagl, Beate, Gathmann, Benjamin, Belohradsky, Bernd H., Ochs, Hans D., Chatila, Talal, Renner, Ellen D., Su, Helen, Freeman, Alexandra F., Engelhardt, Karin, Albert, Michael H.

“…Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term…”
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Outcome of HSCT in Adolescents and Young Adults with Non-SCID Primary Immunodeficiencies by Albert, Michael H., MD, Wiebking, Volker, MD, Notheis, Gundula, MD, Hauck, Fabian, MD, Aumann, Volker, MD, Koletzko, Sibylle, Belohradsky, Bernd H., MD, Führer, Monika, MD, Renner, Ellen D., MD, Tischer, Johanna, MD, Klein, Christoph, MD, Schmid, Irene, MD

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X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease by Booth, Claire, Gilmour, Kimberly C., Veys, Paul, Gennery, Andrew R., Slatter, Mary A., Chapel, Helen, Heath, Paul T., Steward, Colin G., Smith, Owen, O'Meara, Anna, Kerrigan, Hilary, Mahlaoui, Nizar, Cavazzana-Calvo, Marina, Fischer, Alain, Moshous, Despina, Blanche, Stephane, Pachlopnik Schmid, Jana, Latour, Sylvain, de Saint-Basile, Genevieve, Albert, Michael, Notheis, Gundula, Rieber, Nikolaus, Strahm, Brigitte, Ritterbusch, Henrike, Lankester, Arjan, Hartwig, Nico G., Meyts, Isabelle, Plebani, Alessandro, Soresina, Annarosa, Finocchi, Andrea, Pignata, Claudio, Cirillo, Emilia, Bonanomi, Sonia, Peters, Christina, Kalwak, Krzysztof, Pasic, Srdjan, Sedlacek, Petr, Jazbec, Janez, Kanegane, Hirokazu, Nichols, Kim E., Hanson, I. Celine, Kapoor, Neena, Haddad, Elie, Cowan, Morton, Choo, Sharon, Smart, Joanne, Arkwright, Peter D., Gaspar, Hubert B.

“…X-linked lymphoproliferative disease (XLP1) is a rare immunodeficiency characterized by severe immune dysregulation and caused by mutations in the SH2D1A/SAP…”
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Molecular Assessment of Staphylococcus Aureus Strains in STAT3 Hyper-IgE Syndrome Patients by Schwierzeck, Vera, Effner, Renate, Abel, Felicitas, Reiger, Matthias, Notheis, Gundula, Held, Jürgen, Simon, Valeska, Dintner, Sebastian, Hoffmann, Reinhard, Hagl, Beate, Huebner, Johannes, Mellmann, Alexander, Renner, Ellen D.

“…Hyper-IgE syndromes (HIES) are a group of inborn errors of immunity (IEI) caused by monogenic defects such as in the gene STAT3 (STAT3-HIES). Patients…”
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Class Switch Recombination Defects: impact on B cell maturation and antibody responses by Renner, Ellen D., Krätz, Carolin E., Orange, Jordan S., Hagl, Beate, Rylaarsdam, Stacey, Notheis, Gundula, Durandy, Anne, Torgerson, Troy R., Ochs, Hans D.

“…To assess how B cell phenotype analysis correlates with antigen responses in patients with class switch recombination defects (CSRD) we quantified memory B…”
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Allogeneic stem cell transplantation in adolescents and young adults with primary immunodeficiencies by Albert, Michael H., Hauck, Fabian, Wiebking, Volker, Aydin, Susanne, Notheis, Gundula, Koletzko, Sibylle, Führer, Monika, Tischer, Johanna, Klein, Christoph, Schmid, Irene

“…In summary, our data suggest that AYA patients with PIDs can be cured by HSCT with excellent outcomes if they are in good clinical condition without permanent…”
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A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy by Schimke, Lena F., Rieber, Nikolaus, Rylaarsdam, Stacey, Cabral-Marques, Otávio, Hubbard, Nicholas, Puel, Anne, Kallmann, Laura, Sombke, Stephanie Anover, Notheis, Gundula, Schwarz, Hans-Peter, Kammer, Birgit, Hökfelt, Tomas, Repp, Reinald, Picard, Capucine, Casanova, Jean-Laurent, Belohradsky, Bernd H., Albert, Michael H., Ochs, Hans D., Renner, Ellen D., Torgerson, Troy R.

“…Purpose This study reports the identification of a novel heterozygous IKBA missense mutation (p.M37K) in a boy presenting with ectodermal dysplasia with…”
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HIV-1 seroreversion in HIV-1-infected children: do genetic determinants play a role? by Asang, Corinna, Laws, Hans-J, Adams, Ortwin, Enczmann, Jürgen, Feiterna-Sperling, Cornelia, Notheis, Gundula, Buchholz, Bernd, Borkhardt, Arndt, Neubert, Jennifer

“…BACKGROUND:HIV-1 seroreversion in infants with vertically transmitted HIV-1 infection who started ART in the first months of life has been reported in only a…”
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Seroreversion in vertically HIV-1-infected children treated early and efficiently: rule or exception? by EBERLE, Josef, NOTHEIS, Gundula, BLATTMANN, Claudia, JUNG, Jutta, BUCHHOLZ, Bernd, KORN, Klaus, KULOZIK, Andreas E, SCHNITZLER, Paul

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High seroprevalence of antibodies against Kaposi’s sarcoma-associated herpesvirus (KSHV) among HIV-1-infected children and adolescents in a non-endemic population by Feiterna-Sperling, Cornelia, Königs, Christoph, Notheis, Gundula, Buchholz, Bernd, Krüger, Renate, Weizsäcker, Katharina, Eberle, Josef, Hanhoff, Nikola, Gärtner, Barbara, Heider, Harald, Krüger, Detlev H., Hofmann, Jörg

“…Human herpesvirus-8 (HHV-8) is the etiological agent of Kaposi’s sarcoma (KS), which primarily affects human immunodeficiency virus (HIV)-infected adults with…”
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Long-term follow-up and outcome of 39 patients with chronic granulomatous disease by Liese, Johannes, Kloos, Sibylle, Jendrossek, Verena, Petropoulou, Theoni, Wintergerst, Uwe, Notheis, Gundula, Gahr, Manfred, Belohradsky, Bernd H.

“…Objectives: To evaluate the clinical long-term course in patients with chronic granulomatous disease (CGD) with respect to different CGD subtypes and currently…”
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Vorgehen beim infektionsanfälligen Kind by Rack-Hoch, Anita, Notheis, Gundula, Klein, Christoph, Hauck, Fabian

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Basic diagnostics for pediatric outpatients with susceptibility to infections and immundysregulation by Rack-Hoch, Anita, Notheis, Gundula, Klein, Christoph, Hauck, Fabian

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