Germline gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) 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.

Aflac Cancer and Blood Disorders Center Children's Healthcare of Atlanta Emory University School of Medicine United States of America

Allen Institute for Immunology Seattle Washington United States of America

Allergy and Immunology Hospital Rebagliati Lima Peru

Cancer and Blood Disorders Institute Johns Hopkins All Children's Hospital St Petersburg FL United States of America

Children's Hospital at Westmead Westmead Australia

Department of Hematopoietic Stem Cell Transplantation Dmitry Rogachev National Medical Research Center of Pediatric Hematology Oncology and Immunology Moscow Russia

Department of Paediatric Immunology Children's Health Ireland at Crumlin Dublin Ireland

Department of Paediatrics and University Center for Rare Diseases Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden Germany

Department of Pediatric Immunology University Medical Center Utrecht the Netherlands

Department of Pediatrics Division of Pediatric Allergy Immunology and Bone Marrow Transplantation University of California San Francisco United States of America

Department of Pediatrics Sahlgrenska Academy University of Gothenburg Sweden

Department of Pediatrics University Hospital Leipzig Leipzig Germany

Division of Pediatric Allergy and Immunology Marmara University Istanbul Turkey

Division of Pediatric Immunology Bursa Uludag University Bursa Turkey

Division of Pediatric Stem Cell Transplantation and Immunology Department of Pediatric Hematology and Oncology University Medical Center Hamburg Eppendorf Hamburg Germany

German Center for Child and Adolescent Health partner site Leipzig Dresden Dresden Germany

Haematopoietic Stem Cell Transplantation department Great North Children's Hospital Royal Victoria Infirmary Newcastle United Kingdom

Hopital Necker Enfants Malades Paris France

Hospital de la Santa Creu i Sant Pau Barcelona Spain

İstanbul Üniversitesi Cerrahpaşa Istanbul Turkey

Kinderklinik und Kinderpoliklinik im Dr von Haunerschen Kinderspital Ludwig Maximilians Universität München Munich Germany

Memorial Sloan Kettering Cancer Centre New York United States of America

Paediatric Rheumatology and Immunology Service KK Women's and Children's Hospital Singapore

Pediatric Infectious Diseases and Immunodeficiencies Unit Hospital Universitari Vall d'Hebron Vall d'Hebron Research Institute Barcelona Catalonia Spain

Queen Silvia Children's Hospital Gothenborg Sweden

Stanford University California United States of America

Texas Children's Hospital Houston Texas Unites States of America

The Hospital for Sick Children Toronto Canada

Universitat Autònoma de Barcelona Spain

University College London London United Kingdom

University Hospital in Motol Prague Czech Republic

Willem Alexander Children's Hospital Department of Pediatrics Pediatric Stem cell Transplantation program Leiden University Medical Center Leiden The Netherlands

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