{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T15:47:46Z","timestamp":1784735266798,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T00:00:00Z","timestamp":1757289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Loss of function mutations in the gene encoding WASP (Wiskott\u2010Aldrich syndrome protein) result in Wiskott\u2010Aldrich syndrome (WAS) and X\u2010linked thrombocytopenia\u2010XLT (WAS\/XLT). The clinical severity of the disease can be assessed using the WAS clinical severity score. Typically, patients with a score of 3 or less at 2\u2009years of age are considered to have mild WAS\/XLT disease. However, patients with a low score in the first 2\u2009years of life can still experience life\u2010threatening complications, and there are no agreed guidelines for the management of these patients with mild WAS\/XLT. We analyzed data on WAS\/XLT patients from the French National Reference Centre for Primary Immunodeficiencies registry. At 10 December 2021, data were available for 261 patients, 170 of whom had mild WAS\/XLT. The median age of these patients at last follow\u2010up was 15.8\u2009years (range 2.0\u201360.4). Overall survival at 40\u2009years was 73% in mild WAS patients versus 65% in severe WAS patients (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.43). In the mild WAS population, prior to Hematopoietic Stem Cell Transplantation or gene therapy, 38.2% of patients progressed to a WAS severity score of 4\u20135 after the age of 2. Remarkably, no deaths were reported in 45 HSCTs performed since 2010, regardless of initial severity, type and HLA compatibility of the transplant, and age at diagnosis, with a median follow\u2010up of 3.2\u2009years (0\u201311.5) after transplant. As complications can occur throughout life, our study supports definitive treatment for all patients when available, including those with mild forms.\n                  <\/jats:p>","DOI":"10.1002\/ajh.70061","type":"journal-article","created":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T12:00:21Z","timestamp":1757332821000},"page":"2004-2016","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Comorbidities in Mild\n                    <scp>WAS<\/scp>\n                    \/\n                    <scp>XLT<\/scp>\n                    Require Lifelong Follow\u2010Up and Consideration of Definitive Treatment"],"prefix":"10.1002","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8385-4057","authenticated-orcid":false,"given":"Coralie","family":"Mallebranche","sequence":"first","affiliation":[{"name":"Universit\u00e9 D'angers, Universit\u00e9 de Nantes, Inserm, CNRS, CRCI2NA, SFR ICAT  Angers France"},{"name":"CHU Angers, Pediatric Immuno\u2010Hemato\u2010Oncology Unit  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charline","family":"Miot","sequence":"additional","affiliation":[{"name":"Universit\u00e9 D'angers, Universit\u00e9 de Nantes, Inserm, CNRS, CRCI2NA, SFR ICAT  Angers France"},{"name":"CHU Angers, Pediatric Immuno\u2010Hemato\u2010Oncology Unit  Angers France"},{"name":"CHU Angers, Laboratory of Immunology and Allergology  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mickael","family":"Alligon","sequence":"additional","affiliation":[{"name":"French National Reference Centre for Primary Immunodeficiencies (CEREDIH), Necker\u2010Enfants Malades University Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris (AP\u2010HP)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Despina","family":"Moshous","sequence":"additional","affiliation":[{"name":"French National Reference Centre for Primary Immunodeficiencies (CEREDIH), Necker\u2010Enfants Malades University Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris (AP\u2010HP)  Paris France"},{"name":"Imagine Institute Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Pediatric Immunology, Hematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris (AP\u2010HP)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedicte","family":"Neven","sequence":"additional","affiliation":[{"name":"French National Reference Centre for Primary Immunodeficiencies (CEREDIH), Necker\u2010Enfants Malades University Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris (AP\u2010HP)  Paris France"},{"name":"Imagine Institute Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Pediatric Immunology, Hematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris (AP\u2010HP)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Barlogis","sequence":"additional","affiliation":[{"name":"French National Reference Centre for Primary Immunodeficiencies (CEREDIH), Necker\u2010Enfants Malades University Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris (AP\u2010HP)  Paris France"},{"name":"Department of Pediatric Hematology, Immunology and Oncology APHM, H\u00f4pital de la Timone Enfants  Marseille France"},{"name":"CEReSS Research Unit EA 3279 and Department of Public Health, Aix Marseille University, School of Medicine, La Timone Medical Campus  Marseille France"},{"name":"Aix Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Courteille","sequence":"additional","affiliation":[{"name":"French National Reference Centre for Primary Immunodeficiencies (CEREDIH), Necker\u2010Enfants Malades University Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris (AP\u2010HP)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Bruno","sequence":"additional","affiliation":[{"name":"CHU de Lille, Service D'h\u00e9matologie p\u00e9diatrique  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Ouach\u00e9e\u2010Chardin","sequence":"additional","affiliation":[{"name":"Institute of Pediatric Hematology and Oncology (IHOPe) Hospices Civils de Lyon and Claude Bernard University Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalila","family":"Adjaoud","sequence":"additional","affiliation":[{"name":"CHU Grenoble, Pediatric Immuno\u2010Hemato\u2010Oncology Unit  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Delneste","sequence":"additional","affiliation":[{"name":"Universit\u00e9 D'angers, 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