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1. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Author

Vallée, Tanja C., Glasmacher, Jannik S., Buchner, Hannes, Arkwright, Peter D., Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J., Buchbinder, David, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogała, Wojciech, Dueckers, Gregor, Edgar, John David M., Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R., Goldman, Frederick D., Gonzalez-Granado, Luis I., Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Kilic, Sara S., Klein, Christoph, Kołtan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M., Notarangelo, Lucia D., Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj, Schulz, Ansgar, Segundo, Gesmar R., Shcherbina, Anna, Slatter, Mary, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B., Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D., and Albert, Michael H.

Published
2024
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2. Outcomes of HLA-mismatched HSCT with TCRαβ/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity

Author

Lum, Su Han, primary, Albert, Michael H, additional, Gilbert, Patrick, additional, Sirait, Tiarlan, additional, Algeri, Mattia, additional, Muratori, Rafaella, additional, Fournier, Benjamin, additional, Laberko, Alexandra, additional, Karakukcu, Musa, additional, Unal, Ekrem, additional, Ayas, Mouhab F, additional, Yadav, Satya Prakash, additional, Fisgin, Tunc, additional, Elfeky, Reem, additional, Fernandes, Juliana Folloni, additional, Faraci, Maura, additional, Cole, Theresa, additional, Schulz, Ansgar S, additional, Meisel, Roland, additional, Zecca, Marco, additional, Ifversen, Marianne, additional, Biffi, Alessandra, additional, Diana, Jean-Sebastien, additional, Vallée, Tanja C., additional, Giardino, Stefano, additional, Ersoy, Gizem Zengin, additional, Moshous, Despina, additional, Gennery, Andrew R, additional, Balashov, Dmitry, additional, Bonfim, Carmem M.S., additional, Locatelli, Franco, additional, Lankester, Arjan C, additional, Neven, Bénédicte, additional, and Slatter, Mary A, additional

Published
2024
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3. Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Author

Aiuti, Alessandro, Maschan, Alexei, Aljurf, Mahmoud, Gedde-Dahl, Tobias, Gurman, Gunhan, Bordon, Victoria, Kriván, Gergely, Locatelli, Franco, Porta, Fulvio, Valcárcel, David, Beguin, Yves, Faraci, Maura, Kröger, Nicolaus, Kulagin, Aleksandr, Shaw, Peter J., Veelken, Joan Hendrik, Diaz de Heredia, Cristina, Fagioli, Franca, Felber, Matthias, Gruhn, Bernd, Holter, Wolfgang, Rössig, Claudia, Sedlacek, Petr, Apperley, Jane, Ayas, Mouhab, Bodova, Ivana, Choi, Goda, Cornelissen, J.J., Sirvent, Anne, Khan, Anjum, Kupesiz, Alphan, Lenhoff, Stig, Ozdogu, Hakan, von der Weid, Nicolas, Rovira, Montserrat, Schots, Rik, Vinh, Donald C., Albert, Michael H., Sirait, Tiarlan, Eikema, Dirk-Jan, Bakunina, Katerina, Wehr, Claudia, Suarez, Felipe, Fox, Maria Laura, Mahlaoui, Nizar, Gennery, Andrew R., Lankester, Arjan C., Beier, Rita, Bernardo, Maria Ester, Bigley, Venetia, Lindemans, Caroline A., Burns, Siobhan O., Carpenter, Ben, Dybko, Jaroslaw, Güngör, Tayfun, Hauck, Fabian, Lum, Su Han, Balashov, Dmitry, Meisel, Roland, Moshous, Despina, Schulz, Ansgar, Speckmann, Carsten, Slatter, Mary A., Strahm, Brigitte, Uckan-Cetinkaya, Duygu, Meyts, Isabelle, Vallée, Tanja C., Wynn, Robert, Neven, Bénédicte, and Morris, Emma C.

Published
2022
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4. Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis

Author

Albert, Michael H., Slatter, Mary A., Gennery, Andrew R., Güngör, Tayfun, Bakunina, Katerina, Markovitch, Benyamin, Hazelaar, Sheree, Sirait, Tiarlan, Courteille, Virginie, Aiuti, Alessandro, Aleinikova, Olga V., Balashov, Dmitry, Bernardo, Maria Ester, Bodova, Ivana, Bruno, Benedicte, Cavazzana, Marina, Chiesa, Robert, Fischer, Alain, Hauck, Fabian, Ifversen, Marianne, Kałwak, Krzysztof, Klein, Christoph, Kulagin, Alexander, Kupesiz, Alphan, Kuskonmaz, Baris, Lindemans, Caroline A., Locatelli, Franco, Lum, Su Han, Maschan, Alexey, Meisel, Roland, Moshous, Despina, Porta, Fulvio, Sauer, Martin G., Sedlacek, Petr, Schulz, Ansgar, Suarez, Felipe, Vallée, Tanja C., Winiarski, Jacek H., Zecca, Marco, Neven, Bénédicte, Veys, Paul, and Lankester, Arjan C.

Published
2022
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5. Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Author

Albert, Michael H., primary, Sirait, Tiarlan, additional, Eikema, Dirk-Jan, additional, Bakunina, Katerina, additional, Wehr, Claudia, additional, Suarez, Felipe, additional, Fox, Maria Laura, additional, Mahlaoui, Nizar, additional, Gennery, Andrew R., additional, Lankester, Arjan C., additional, Beier, Rita, additional, Bernardo, Maria Ester, additional, Bigley, Venetia, additional, Lindemans, Caroline A., additional, Burns, Siobhan O., additional, Carpenter, Ben, additional, Dybko, Jaroslaw, additional, Güngör, Tayfun, additional, Hauck, Fabian, additional, Lum, Su Han, additional, Balashov, Dmitry, additional, Meisel, Roland, additional, Moshous, Despina, additional, Schulz, Ansgar, additional, Speckmann, Carsten, additional, Slatter, Mary A., additional, Strahm, Brigitte, additional, Uckan-Cetinkaya, Duygu, additional, Meyts, Isabelle, additional, Vallée, Tanja C., additional, Wynn, Robert, additional, Neven, Bénédicte, additional, Morris, Emma C., additional, Aiuti, Alessandro, additional, Maschan, Alexei, additional, Aljurf, Mahmoud, additional, Gedde-Dahl, Tobias, additional, Gurman, Gunhan, additional, Bordon, Victoria, additional, Kriván, Gergely, additional, Locatelli, Franco, additional, Porta, Fulvio, additional, Valcárcel, David, additional, Beguin, Yves, additional, Faraci, Maura, additional, Kröger, Nicolaus, additional, Kulagin, Aleksandr, additional, Shaw, Peter J., additional, Veelken, Joan Hendrik, additional, Diaz de Heredia, Cristina, additional, Fagioli, Franca, additional, Felber, Matthias, additional, Gruhn, Bernd, additional, Holter, Wolfgang, additional, Rössig, Claudia, additional, Sedlacek, Petr, additional, Apperley, Jane, additional, Ayas, Mouhab, additional, Bodova, Ivana, additional, Choi, Goda, additional, Cornelissen, J.J., additional, Sirvent, Anne, additional, Khan, Anjum, additional, Kupesiz, Alphan, additional, Lenhoff, Stig, additional, Ozdogu, Hakan, additional, von der Weid, Nicolas, additional, Rovira, Montserrat, additional, Schots, Rik, additional, and Vinh, Donald C., additional

Published
2022
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6. Wiskott-Aldrich syndrome: a retrospective study of 577 patients defines the genotype as a predictive biomarker for disease severity and survival

Author

Vallée, Tanja C., Glasmacher, Jannik S., Buchner, Hannes, Arkwright, Peter D., Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J., Buchbinder, David, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogała, Wojciech, Dueckers, Gregor, Edgar, John David M., Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R., Goldman, Frederick D., Gonzalez-Granado, Luis I., Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Kołtan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M., Notarangelo, Lucia D., Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj, Schulz, Ansgar, Segundo, Gesmar R., Shcherbina, Anna, Slatter, Mary, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B., Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D., and Albert, Michael H.

Abstract

•The type of genetic variant is a predictive biomarker for disease severity and survival in WAS.•Patients with less severe variants experience a later onset of disease-related complications but remain prone to morbidity and premature mortality.

Published
2024
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7. Interleukin-1 blockade in patients with Wiskott-Aldrich Syndrome: a retrospective multinational case series.

Author

Naviglio S, Cicalese MP, Rivers E, Ferrua F, Bonfim CMS, Cenciarelli S, Cheong KN, Faraci M, Giardino S, Ghosh S, Lee PP, Lyra PT, Meisel R, Sofia V, Tessitore A, Tommasini A, Valencic E, Vallée TC, Volpi S, Worth AJ, Rabusin M, Albert MH, Thrasher AJ, and Aiuti A

Abstract

Up to 70% of patients with Wiskott-Aldrich Syndrome (WAS) develop autoimmune and inflammatory manifestations. Dysregulation of interleukin (IL)-1 may be involved in their pathogenesis, yet there is little evidence on treatment with anti-IL-1 agents in these patients. We conducted a multicenter retrospective analysis of nine patients with WAS treated with anti-IL-1 agents (anakinra or canakinumab). All patients had prominent inflammatory manifestations, including systemic, cutaneous, articular, and intestinal symptoms; three patients presented with a severe systemic inflammatory syndrome since the first months of life. Corticosteroid therapy was associated with partial or no response, while treatment with anakinra or canakinumab resulted in prompt, often dramatic, responses in all patients, allowing bridging to gene therapy (four patients) or hematopoietic stem cell transplantation (HSCT, five patients). Treatment was overall well tolerated. Low donor myeloid chimerism developed in four patients after HSCT and was associated with the appearance or the recurrence of inflammatory manifestations. A second HSCT was performed in two patients, achieving full-donor chimerism and resolution of inflammatory manifestation, while the other two patients were treated with prolonged therapy with anti-IL-1 agents. Our experience demonstrates that some inflammatory manifestations of WAS are dependent on IL-1 and respond very well to its pharmacologic blockade., (Copyright © 2024 American Society of Hematology.)

Published
2024
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