Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiencyGámez-Díaz, Laura, MSc ; August, Dietrich, cand. MD ; Stepensky, Polina, MD ; Revel-Vilk, Shoshana, MD, MSc ; Seidel, Markus G., MD ; Noriko, Mitsuiki, MD ; Morio, Tomohiro, MD, PhD ; Worth, Austen J.J., MD, PhD ; Blessing, Jacob, MD, PhD ; Van de Veerdonk, Frank, MD, PhD ; Feuchtinger, Tobias, MD ; Kanariou, Maria, MD, PhD ; Schmitt-Graeff, Annette, MD ; Jung, Sophie, DD, PhD ; Seneviratne, Suranjith, MD, PhD ; Burns, Siobhan, MD ; Belohradsky, Bernd H., MD ; Rezaei, Nima, MD, PhD ; Bakhtiar, Shahrzad, MD ; Speckmann, Carsten, MD ; Jordan, Michael, MD ; Grimbacher, Bodo, MDJournal of allergy and clinical immunology, 2016-01, Vol.137 (1), p.223-230 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
2 |
Material Type: Artigo
|
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndromeVölkl, Simon ; Rensing-Ehl, Anne ; Allgäuer, Andrea ; Schreiner, Elisabeth ; Lorenz, Myriam Ricarda ; Rohr, Jan ; Klemann, Christian ; Fuchs, Ilka ; Schuster, Volker ; von Bueren, André O. ; Naumann-Bartsch, Nora ; Gambineri, Eleonora ; Siepermann, Kathrin ; Kobbe, Robin ; Nathrath, Michaela ; Arkwright, Peter D. ; Miano, Maurizio ; Stachel, Klaus-Daniel ; Metzler, Markus ; Schwarz, Klaus ; Kremer, Anita N. ; Speckmann, Carsten ; Ehl, Stephan ; Mackensen, AndreasBlood, 2016-07, Vol.128 (2), p.227-238 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
3 |
Material Type: Artigo
|
Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 MutationsToskov, Vasil ; Kaiser-Labusch, Petra ; Lee-Kirsch, Min Ae ; Ehl, Stephan ; Wegehaupt, OliverJournal of clinical immunology, 2024-08, Vol.44 (6), p.129, Article 129 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
|
4 |
Material Type: Artigo
|
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spotsla Marca, Giancarlo, PharmSc ; Canessa, Clementina, MD ; Giocaliere, Elisa, BSc ; Romano, Francesca, BSc ; Malvagia, Sabrina, BSc ; Funghini, Silvia, PhD ; Moriondo, Maria, BSc ; Valleriani, Claudia, BSc ; Lippi, Francesca, MD ; Ombrone, Daniela, BSc ; Della Bona, Maria Luisa, PharmSc ; Speckmann, Carsten, MD ; Borte, Stephan, MD ; Brodszki, Nicholas, MD ; Gennery, Andrew R., MD ; Weinacht, Katja ; Celmeli, Fatih, MD ; Pagel, Julia, MD ; de Martino, Maurizio, MD ; Guerrini, Renzo, MD ; Wittkowski, Helmut, MD ; Santisteban, Ines, PhD ; Bali, Pawan, PhD ; Ikinciogullari, Aydan, MD ; Hershfield, Michael, MD ; Notarangelo, Luigi D., MD ; Resti, Massimo, MD ; Azzari, Chiara, MDJournal of allergy and clinical immunology, 2014-07, Vol.134 (1), p.155-159.e3 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
|
5 |
Material Type: Artigo
|
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseasesROHR, Jan ; BEUTEL, Karin ; WOESSMANN, Wilhelm ; GROLL, Andreas H ; STRAHM, Brigitte ; PAGEL, Julia ; SPECKMANN, Carsten ; JANKA, Gritta ; GRIFFITHS, Gillian ; SCHWARZ, Klaus ; ZUR STADT, Udo ; EHL, Stephan ; MAUL-PAVICIC, Andrea ; VRAETZ, Thomas ; THIEL, Jens ; WARNATZ, Klaus ; BONDZIO, Ilka ; GROSS-WIELTSCH, Ute ; SCHÜNDELN, Michael ; SCHÜTZ, BarbaraHaematologica (Roma), 2010-12, Vol.95 (12), p.2080-2087 [Periódico revisado por pares]Pavia: Ferrata Storti FoundationTexto completo disponível |
|
6 |
Material Type: Artigo
|
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type IIEnders, Anselm ; Zieger, Barbara ; Schwarz, Klaus ; Yoshimi, Ayami ; Speckmann, Carsten ; Knoepfle, Eva-Maria ; Kontny, Udo ; Müller, Christoph ; Nurden, Alan ; Rohr, Jan ; Henschen, Matthias ; Pannicke, Ulrich ; Niemeyer, Charlotte ; Nurden, Paquita ; Ehl, StephanBlood, 2006-07, Vol.108 (1), p.81-87 [Periódico revisado por pares]Washington, DC: Elsevier IncTexto completo disponível |
|
7 |
Material Type: Artigo
|
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective studyBarzaghi, Federica ; Amaya Hernandez, Laura Cristina ; Neven, Benedicte ; Ricci, Silvia ; Kucuk, Zeynep Yesim ; Bleesing, Jack J. ; Nademi, Zohreh ; Slatter, Mary Anne ; Ulloa, Erlinda Rose ; Shcherbina, Anna ; Roppelt, Anna ; Worth, Austen ; Silva, Juliana ; Aiuti, Alessandro ; Murguia-Favela, Luis ; Speckmann, Carsten ; Carneiro-Sampaio, Magda ; Fernandes, Juliana Folloni ; Baris, Safa ; Ozen, Ahmet ; Karakoc-Aydiner, Elif ; Kiykim, Ayca ; Schulz, Ansgar ; Steinmann, Sandra ; Notarangelo, Lucia Dora ; Gambineri, Eleonora ; Lionetti, Paolo ; Shearer, William Thomas ; Forbes, Lisa R. ; Martinez, Caridad ; Moshous, Despina ; Blanche, Stephane ; Fisher, Alain ; Ruemmele, Frank M. ; Tissandier, Come ; Ouachee-Chardin, Marie ; Rieux-Laucat, Frédéric ; Cavazzana, Marina ; Qasim, Waseem ; Lucarelli, Barbarella ; Albert, Michael H. ; Kobayashi, Ichiro ; Alonso, Laura ; Diaz De Heredia, Cristina ; Kanegane, Hirokazu ; Lawitschka, Anita ; Seo, Jong Jin ; Gonzalez-Vicent, Marta ; Diaz, Miguel Angel ; Goyal, Rakesh Kumar ; Sauer, Martin G. ; Yesilipek, Akif ; Kim, Minsoo ; Yilmaz-Demirdag, Yesim ; Bhatia, Monica ; Khlevner, Julie ; Richmond Padilla, Erick J. ; Martino, Silvana ; Montin, Davide ; Neth, Olaf ; Molinos-Quintana, Agueda ; Valverde-Fernandez, Justo ; Broides, Arnon ; Pinsk, Vered ; Ballauf, Antje ; Haerynck, Filomeen ; Bordon, Victoria ; Dhooge, Catharina ; Garcia-Lloret, Maria Laura ; Bredius, Robbert G. ; Kałwak, Krzysztof ; Haddad, Elie ; Seidel, Markus Gerhard ; Duckers, Gregor ; Pai, Sung-Yun ; Dvorak, Christopher C. ; Ehl, Stephan ; Locatelli, Franco ; Goldman, Frederick ; Gennery, Andrew Richard ; Cowan, Mort J. ; Roncarolo, Maria-Grazia ; Bacchetta, RosaJournal of allergy and clinical immunology, 2018-03, Vol.141 (3), p.1036-1049.e5 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
8 |
Material Type: Artigo
|
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort studyCoulter, Tanya I., MRCPI ; Chandra, Anita, PhD, FRCPath ; Bacon, Chris M., PhD, FRCPath ; Babar, Judith, MRCP, FRCR ; Curtis, James, PhD ; Screaton, Nick, FRCP, FRCR ; Goodlad, John R., MD, FRCPath ; Farmer, George, MD ; Steele, Cathal Laurence, MB ; Leahy, Timothy Ronan, MRCPI ; Doffinger, Rainer, PhD, FRCPath ; Baxendale, Helen, PhD, FRCPath ; Bernatoniene, Jolanta, PhD ; Edgar, J. David M., FRCP, FRCPath ; Longhurst, Hilary J., PhD, FRCPath ; Ehl, Stephan, MD, PhD ; Speckmann, Carsten, MD ; Grimbacher, Bodo, MD, PhD ; Sediva, Anna, MD, PhD ; Milota, Tomas, MD ; Faust, Saul N., PhD, FRCPCH ; Williams, Anthony P., PhD, FRCPath ; Hayman, Grant, FRCP, FRCPath ; Kucuk, Zeynep Yesim, MD ; Hague, Rosie, MRCP, FRCPH ; French, Paul, MD, MRCS, DipFMS, FRCPath ; Brooker, Richard, FRCPCH ; Forsyth, Peter, FRCPath ; Herriot, Richard, FRCP, FRCPath ; Cancrini, Caterina, MD, PhD ; Palma, Paolo, MD, PhD ; Ariganello, Paola, MD ; Conlon, Niall, PhD, FRCPath ; Feighery, Conleth, PhD, FRCPath ; Gavin, Patrick J., MD ; Jones, Alison, PhD, FRCPCH ; Imai, Kohsuke, MD, PhD ; Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath ; Markelj, Gašper, MD ; Abinun, Mario, MD, PhD ; Rieux-Laucat, Frédéric, PhD ; Latour, Sylvain, PhD ; Pellier, Isabelle, MD, PhD ; Fischer, Alain, MD, PhD ; Touzot, Fabien, MD, PhD ; Casanova, Jean-Laurent, MD, PhD ; Durandy, Anne, MD, PhD ; Burns, Siobhan O., MD, PhD ; Savic, Sinisa, PhD, FRCPath ; Kumararatne, D.S., FRCPath, DPhil (Oxon) ; Moshous, Despina, MD, PhD ; Kracker, Sven, PhD ; Vanhaesebroeck, Bart, PhD, FMedSci ; Okkenhaug, Klaus, PhD ; Picard, Capucine, MD, PhD ; Nejentsev, Sergey, MD, PhD ; Condliffe, Alison M., PhD, FRCP ; Cant, Andrew James, MD, FRCP, FRCPHJournal of allergy and clinical immunology, 2017-02, Vol.139 (2), p.597-606.e4 [Periódico revisado por pares]United States: MosbyTexto completo disponível |
|
9 |
Material Type: Artigo
|
SARS-CoV-2 in children with cancer or after haematopoietic stem cell transplant: An analysis of 131 patientsHaeusler, Gabrielle M. ; Ammann, Roland A. ; Carlesse, Fabianne ; Groll, Andreas H. ; Averbuch, Dina ; Castagnola, Elio ; Agyeman, Philipp K.A. ; Phillips, Bob ; Gilli, Flávio ; Solopova, Galina ; Attarbaschi, Andishe ; Wegehaupt, Oliver ; Speckmann, Carsten ; Sung, Lillian ; Lehrnbecher, ThomasEuropean journal of cancer (1990), 2021-12, Vol.159, p.78-86 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
|
10 |
Material Type: Artigo
|
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndromeDimitrova, Dimana ; Nademi, Zohreh ; Maccari, Maria Elena ; Ehl, Stephan ; Uzel, Gulbu ; Tomoda, Takahiro ; Okano, Tsubasa ; Imai, Kohsuke ; Carpenter, Benjamin ; Ip, Winnie ; Rao, Kanchan ; Worth, Austen J.J. ; Laberko, Alexandra ; Mukhina, Anna ; Néven, Bénédicte ; Moshous, Despina ; Speckmann, Carsten ; Warnatz, Klaus ; Wehr, Claudia ; Abolhassani, Hassan ; Aghamohammadi, Asghar ; Bleesing, Jacob J. ; Dara, Jasmeen ; Dvorak, Christopher C. ; Ghosh, Sujal ; Kang, Hyoung Jin ; Markelj, Gašper ; Modi, Arunkumar ; Bayer, Diana K. ; Notarangelo, Luigi D. ; Schulz, Ansgar ; Garcia-Prat, Marina ; Soler-Palacín, Pere ; Karakükcü, Musa ; Yilmaz, Ebru ; Gambineri, Eleonora ; Menconi, Mariacristina ; Masmas, Tania N. ; Holm, Mette ; Bonfim, Carmem ; Prando, Carolina ; Hughes, Stephen ; Jolles, Stephen ; Morris, Emma C. ; Kapoor, Neena ; Koltan, Sylwia ; Paneesha, Shankara ; Steward, Colin ; Wynn, Robert ; Duffner, Ulrich ; Gennery, Andrew R. ; Lankester, Arjan C. ; Slatter, Mary ; Kanakry, Jennifer A.Journal of allergy and clinical immunology, 2022-01, Vol.149 (1), p.410-421.e7 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |