Search Results - "VON BERNUTH, H"

Hemolytic anemia following intravenous immunoglobulins in children with PIMS-TS: Two case reports by Sedlin, E, Lau, S, von Bernuth, H, Kallinich, T, Mayer, B

“…This is the first case report on two children presenting with immediate and severe hemolytic anemia following the administration of high-dose intravenous…”
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Use of gene expression profiling to identify candidate genes for pretherapeutic patient classification in acute appendicitis by Kiss, N, Minderjahn, M, Reismann, J, Svensson, J, Wester, T, Hauptmann, K, Schad, M, Kallarackal, J, von Bernuth, H, Reismann, M

“…Phlegmonous and gangrenous appendicitis represent independent pathophysiological entities with different clinical courses ranging from spontaneous resolution…”
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Delayed onset of (severe) combined immunodeficiency (S)CID (T-B+NK+): complete IL-7 receptor deficiency in a 22 months old girl by Rossberg, S, Schwarz, K, Meisel, C, Holzhauer, S, Kühl, J, Ebell, W, Wahn, V, von Bernuth, H

“…Usually IL-7 receptor deficiency presents as (T-B+NK+) (Severe) Combined Immunodeficiency (SCID) within the first six months of life. All published…”
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X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis by Speckmann, C, Lehmberg, K, Albert, M.H, Damgaard, R.B, Fritsch, M, Gyrd-Hansen, M, Rensing-Ehl, A, Vraetz, T, Grimbacher, B, Salzer, U, Fuchs, I, Ufheil, H, Belohradsky, B.H, Hassan, A, Cale, C.M, Elawad, M, Strahm, B, Schibli, S, Lauten, M, Kohl, M, Meerpohl, J.J, Rodeck, B, Kolb, R, Eberl, W, Soerensen, J, von Bernuth, H, Lorenz, M, Schwarz, K, zur Stadt, U, Ehl, S

“…Abstract X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative…”
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A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4 by Alsina, Laia, Israelsson, Elisabeth, Altman, Matthew C, Dang, Kristen K, Ghandil, Pegah, Israel, Laura, von Bernuth, Horst, Baldwin, Nicole, Qin, Huanying, Jin, Zongbo, Banchereau, Romain, Anguiano, Esperanza, Ionan, Alexei, Abel, Laurent, Puel, Anne, Picard, Capucine, Pascual, Virginia, Casanova, Jean Laurent, Chaussabel, Damien

“…People with loss of function of MyD88 or IRAK4 have a surprisingly limited altered phenotype. Chaussabel and colleagues use a systems approach to identify…”
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Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only by Chao, M. M., Kuehl, J. S., Strauss, G., Hanenberg, H., Schindler, D., Neitzel, H., Niemeyer, C., Baumann, I., von Bernuth, H., Rascon, J., Nagy, M., Zimmermann, M., Kratz, C. P., Ebell, W.

“…Fanconi anemia (FA) is a genomic instability syndrome associated with bone marrow failure, myelodysplastic syndrome (MDS), and/or acute myeloid leukemia (AML)…”
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Shigella sonnei Meningitis Due to Interleukin-1 Receptor—Associated Kinase—4 Deficiency: First Association with a Primary Immune Deficiency by Chapel, Helen, Puel, Anne, von Bernuth, Horst, Picard, Capucine, Casanova, Jean-Laurent

“…Background. Inherited interleukin-1-receptor-associated kinase-4 (IRAK-4) deficiency is a recently described immunodeficiency associated with pyogenic…”
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Interdisciplinary AWMF guideline for the diagnostics of primary immunodeficiency by Farmand, S, Baumann, U, von Bernuth, H, Borte, M, Foerster-Waldl, E, Franke, K, Habermehl, P, Kapaun, P, Klock, G, Liese, J, Marks, R, Müller, R, Nebe, T, Niehues, T, Schuster, V, Warnatz, K, Witte, T, Ehl, S, Schulze, I

“…Primary immunodeficiencies are potentially life-threatening diseases. Over the last years, the clinical phenotype and the molecular basis of an increasing…”
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Severe macrophage activation syndrome. Is there a causative role for a homozygous A91V mutation in the perforin gene? by Girschick, H, Rossi, R, Kölsch, U, Ammann, S, Lohse, P, Morbach, H, von Bernuth, H, Ehl, S

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Interdisciplinary AWMF guideline for the treatment of primary antibody deficiencies by Krudewig, J, Baumann, U, Bernuth von, H, Borte, M, Burkhard-Meier, U, Dueckers, G, Foerster-Waldl, E, Franke, K, Habermehl, P, Hönig, M, Kern, W, Kösters, K, Kugel, K, Lehrnbecher, T, Liese, J, Marks, R, Müller, G A, Müller, R, Nadal, D, Peter, H-H, Pfeiffer-Kascha, D, Schneider, M, Sitter, H, Späth, P, Wahn, V, Welte, T, Niehues, T

“…Currently, management of antibody deficient patients differs significantly among caregivers. Evidence and consensus based (S3) guidelines for the treatment of…”
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Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID) by Kühl, J S, Schwarz, K, Münch, A, Schmugge, M, Pekrun, A, Meisel, C, Wahn, V, Ebell, W, von Bernuth, H

“…Adenosin deaminase (ADA) deficiency is the cause for Severe Combined Immunodeficiency (SCID) in about 15% of patients with SCID, often presenting as T (-)B…”
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Genetic predisposition and children infectious disease by Picard, C, Filipe-Santos, O, Chapgier, A, von Bernuth, H, Vogt, G, Casanova, J-L

“…The classic primary immunodeficiencies confer predisposition to multiple infectious diseases. However since ten years severe pediatric infections which were…”
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Viral modulation of cell death by inhibition of caspases by Cassens, Uwe, Lewinski, Grzegorz, Samraj, Ajoy K, von Bernuth, Horst, Baust, Heinrich, Khazaie, Khashayarsha, Los, Marek

“…Caspases are key effectors of the apoptotic process. Some of them play important roles in the immune system, being involved in the proteolytic maturation of…”
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Candida albicans induces neutrophil extracellular traps and leucotoxic hypercitrullination via candidalysin by Unger, Lucas, Skoluda, Samuel, Backman, Emelie, Amulic, Borko, Ponce-Garcia, Fernando M, Etiaba, Chinelo Nc, Yellagunda, Sujan, Krüger, Renate, von Bernuth, Horst, Bylund, Johan, Hube, Bernhard, Naglik, Julian R, Urban, Constantin F

“…The peptide toxin candidalysin, secreted by Candida albicans hyphae, promotes stimulation of neutrophil extracellular traps (NETs). However, candidalysin alone…”
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The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants by Materna, Marie, Delmonte, Ottavia M, Bosticardo, Marita, Momenilandi, Mana, Conrey, Peyton E, Charmeteau-De Muylder, Bénédicte, Bravetti, Clotilde, Bellworthy, Rebecca, Cederholm, Axel, Staels, Frederik, Ganoza, Christian A, Darko, Samuel, Sayed, Samir, Le Floc'h, Corentin, Ogishi, Masato, Rinchai, Darawan, Guenoun, Andrea, Bolze, Alexandre, Khan, Taushif, Gervais, Adrian, Krüger, Renate, Völler, Mirjam, Palterer, Boaz, Sadeghi-Shabestari, Mahnaz, Langlois de Septenville, Anne, Schramm, Chaim A, Shah, Sanjana, Tello-Cajiao, John J, Pala, Francesca, Amini, Kayla, Campos, Jose S, Lima, Noemia Santana, Eriksson, Daniel, Lévy, Romain, Seeleuthner, Yoann, Jyonouchi, Soma, Ata, Manar, Al Ali, Fatima, Stittrich, Anna, Deswarte, Caroline, Pereira, Anaïs, Mégret, Jérôme, Le Voyer, Tom, Bastard, Paul, Berteloot, Laureline, Dussiot, Michaël, Vladikine, Natasha, Cardenas, Paula P, Jouanguy, Emmanuelle, Alqahtani, Mashael, Hasan, Amal, Thanaraj, Thangavel Alphonse, Rosain, Jérémie, Al Qureshah, Fahd, Sabato, Vito, Alyanakian, Marie Alexandra, Leruez-Ville, Marianne, Rozenberg, Flore, Haddad, Elie, Regueiro, Jose R, Toribio, Maria L, Kelsen, Judith R, Salehi, Mansoor, Nasiri, Shahram, Torabizadeh, Mehdi, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Vatandoost, Nasimeh, Moravej, Hossein, Akrami, Seyed Mohammad, Mazloomrezaei, Mohsen, Cobat, Aurélie, Meyts, Isabelle, Toyofuku, Etsushi, Nishimura, Madoka, Moriya, Kunihiko, Mizukami, Tomoyuki, Imai, Kohsuke, Abel, Laurent, Malissen, Bernard, Al-Mulla, Fahd, Alkuraya, Fowzan Sami, Parvaneh, Nima, von Bernuth, Horst, Beetz, Christian, Davi, Frédéric, Douek, Daniel C, Cheynier, Rémi, Langlais, David, Landegren, Nils, Marr, Nico, Morio, Tomohiro, Shahrooei, Mohammad, Schrijvers, Rik, Henrickson, Sarah E, Luche, Hervé, Notarangelo, Luigi D, Casanova, Jean-Laurent, Béziat, Vivien

“…We describe humans with rare biallelic loss-of-function variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts…”
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Human TLR-7-, -8-, and -9-Mediated Induction of IFN-α/β and -λ Is IRAK-4 Dependent and Redundant for Protective Immunity to Viruses by Yang, Kun, Puel, Anne, Zhang, Shenying, Eidenschenk, Céline, Ku, Cheng-Lung, Casrouge, Armanda, Picard, Capucine, von Bernuth, Horst, Senechal, Brigitte, Plancoulaine, Sabine, Al-Hajjar, Sami, Al-Ghonaium, Abdulaziz, Maródi, László, Davidson, Donald, Speert, David, Roifman, Chaim, Garty, Ben-Zion, Ozinsky, Adrian, Barrat, Franck J., Coffman, Robert L., Miller, Richard L., Li, Xiaoxia, Lebon, Pierre, Rodriguez-Gallego, Carlos, Chapel, Helen, Geissmann, Frédéric, Jouanguy, Emmanuelle, Casanova, Jean-Laurent

“…Five TLRs are thought to play an important role in antiviral immunity, sensing viral products and inducing IFN-α/β and -λ. Surprisingly, patients with a defect…”
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Prédisposition génétique et infections de l'enfant by Picard, C., Filipe-Santos, O., Chapgier, A., von Bernuth, H., Vogt, G., Casanova, J.-L.

“…Les déficits immunitaires héréditaires classiques sont responsables d'une prédisposition infectieuse large et multiple. Cependant, depuis une dizaine d'année,…”
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IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease by Ku, Cheng-Lung, Picard, Capucine, Erdös, Melinda, Jeurissen, Axel, Bustamante, Jacinta, Puel, Anne, von Bernuth, Horst, Filipe-Santos, Orchidée, Chang, Huey-Hsuan, Lawrence, Tatiana, Raes, Marc, Maródi, László, Bossuyt, Xavier, Casanova, Jean-Laurent

“…Background: About 2% of childhood episodes of invasive pneumococcal disease (IPD) are recurrent, and most remain unexplained. Objective: To report two cases of…”
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Inherited disorders of human Toll-like receptor signaling: immunological implications by Ku, Cheng-Lung, Yang, Kun, Bustamante, Jacinta, Puel, Anne, Von Bernuth, Horst, Santos, Orchidée Filipe, Lawrence, Tatiana, Chang, Huey-Hsuan, Al-Mousa, Hamoud, Picard, Capucine, Casanova, Jean-Laurent

“…In vitro nine of 10 known human Toll‐like receptors (TLRs) are engaged by well‐defined chemical agonists that mimic microbial compounds, raising the…”
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PW01-008 – The inflammasome and secretory pathways in FMF by Orak, B, Kallinich, T, Lieber, M, von Bernuth, H, Wittkowski, H, Foell, D

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