Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging
Emilie P. Buddingh, Mary Slatter, Juan Carlos Aldave Becerra, Laura Alonso, Erik G. J. von Asmuth, Safa Barış, Oscar De La Calle-Martin, Alice Chan, Su‐Wan Bianca Chan, Shanmuganathan Chandrakasan, Deepak Chellapandian, Jasmeen Dara, Susan Farmand, Anders Fasth, Lisa Forbes Satter, Renata Formánková, Eyal Grunebaum, Steven J. Keogh, Ayça Kıykım, Jörn‐Sven Kühl, Alexandra Laberko, Timothy Ronan Leahy, Caroline A. Lindemans, Caridad Martinez, Laura Martínez‐Martínez, William Mitchell, Emma Morris, Joseph H. Oved, Maria Polacik, Jacques G. Rivière, Chaim M. Roifman, Sara Şebnem Kılıç, Petr Sedlacek, Ami J. Shah, Linda Vong, Arjan C. Lankester, Michael H. Albert, Bénédicte Neven, Troy R. Torgerson, Jennifer W. Leiding, Catharina Schütz, Inborn Errors Working Party (IEWP),, European Society for Blood and Marrow Transplantation (EBMT)
Abstract
) are associated with infections, including chronic mucocutaneous candidiasis and autoimmunity. Morbidity is high, and disease manifestations can be life-threatening. Curative allogeneic hematopoietic stem cell transplantation (HSCT) historically has had poor outcomes. We identified 36 patients with STAT1 GOF disease, receiving 40 HSCT procedures in 2010-2023, in a combined effort of the EBMT-IEWP and the PIDTC. Median age at first transplant was 11 years (range 1 - 33). Indications for HSCT were combined immunodeficiency, severe and/or refractory infections, and autoimmunity. Acute GvHD occurred in 22/40 HSCT procedures; 5 patients suffered from grade III/IV acute GvHD. One patient had chronic GvHD. Overall survival was 72.2%, and event-free survival was 55.6%, markedly improved from an earlier report on HSCT for STAT1 GOF disease. Patients with an HCT-CI score of 1 or higher had worse outcome. Pre-treatment with Janus kinase (JAK) inhibitors was associated with better event-free survival.