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

Autor: 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 ^†, Ehl, Stephan ^{†, *}

Publikováno v: In The Lancet Haematology February 2024 11(2):e114-e126

Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene

Autor: Capo, Valentina, Abinun, Mario, Villa, Anna

Publikováno v: In Bone December 2022 165

T-replete HLA-matched grafts vs T-depleted HLA-mismatched grafts in inborn errors of immunity

Autor: Lum, Su Han ^*, Greener, Sinéad, Perez-Heras, Inigo, Drozdov, Daniel, Payne, Rebecca P., Watson, Helen, Carruthers, Kay, January, Robert, Nademi, Zohreh, Owens, Stephen, Williams, Eleri, Waugh, Sheila, Burton-Fanning, Shirelle, Leahy, Timmothy Ronan, Cant, Andrew, Abinun, Mario, Flood, Terry, Hambleton, Sophie, Gennery, Andrew R. ^*, Slatter, Mary

Publikováno v: In Blood Advances 22 February 2022 6(4):1319-1328

Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2

Autor: Schim van der Loeff, Ina, Sprenkeler, Evelien G.G., Tool, Anton T.J., Abinun, Mario, Grainger, Angela, Engelhardt, Karin R., van Houdt, Michel, Janssen, Hans, Kuijpers, Taco W., Hambleton, Sophie

Publikováno v: In The Journal of Allergy and Clinical Immunology June 2021 147(6):2381-2385

Improved transplant survival and long-term disease outcome in children with MHC class II deficiency

Autor: Lum, Su Han ^{1, 1}, Anderson, Claire ¹, McNaughton, Peter ¹, Engelhardt, Karin Regine ², MacKenzie, Brigid ¹, Watson, Helen ³, Al-Mousa, Hamoud ⁴, Al-Herz, Waleed ⁵, Al-Saud, Bandar ⁴, Mohammed, Reem ⁴, Al-Zahrani, Daifulah M. ^{6, 7}, Alghamdi, Hamza Ali ⁸, Goronfolah, Loie ⁷, Nademi, Zohreh ^{1, 2}, Habibollah, Sahar ¹, Flinn, Aisling M. ¹, Shillitoe, Benjamin ¹, Owens, Stephen ¹, Williams, Eleri ¹, Emonts, Marieke ^{1, 2}, Hambleton, Sophie ^{1, 2}, Abinun, Mario ^{1, 2}, Flood, Terrence ¹, Cant, Andrew ¹, Gennery, Andrew R. ^{1, 2, *}, Slatter, Mary ^{1, 2, *}

Publikováno v: In Blood 19 March 2020 135(12):954-973