{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T01:40:50Z","timestamp":1793929250177,"version":"4.8.0"},"reference-count":77,"publisher":"American Society of Hematology","issue":"1","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,7,3]]},"abstract":"<jats:sec>\n                  <jats:title>Abstract<\/jats:title>\n                  <jats:p>Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder, characterized by thrombocytopenia, eczema, recurrent infections, autoimmunity, and malignancy. Here, we discuss current conservative and definitive approaches to treating WAS, based on recently published evidence. Disease severity in WAS is highly variable. Recent studies confirm that the probability of disease progression depends on the type of genetic variant, supporting early diagnosis and tailored treatment strategies. Milder cases, historically termed X-linked thrombocytopenia (XLT), received supportive care, whereas severe cases were referred for standard allogeneic hematopoietic cell transplantation (HCT) or gene therapy (GT) in clinical trials. Advances in HCT and GT, together with recent knowledge that even patients with XLT are at risk for severe immune complications, suggest that most young patients with WAS should be offered a potentially curative approach at diagnosis. Older patients with a small subset of milder variants may be treated conservatively unless they develop life-threatening autoimmune or malignant complications; regular monitoring and proactive management are critical to preventing irreversible complications. We recommend discontinuing the term XLT as it implies a mild and uncomplicated disease, which is not the norm, and instead tailor treatment for all patients with WAS to their individual genetic profile, disease severity, and clinical course.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1182\/blood.2024026288","type":"journal-article","created":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T19:07:01Z","timestamp":1744312021000},"page":"41-51","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":19,"title":["How I treat Wiskott-Aldrich syndrome"],"prefix":"10.1182","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-0171-1146","authenticated-orcid":false,"given":"Tanja C.","family":"Vall\u00e9e","sequence":"first","affiliation":[{"name":"1Department of Pediatrics, Dr von Hauner University Children\u2019s Hospital, Ludwig-Maximilians-Universit\u00e4t, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9143-3263","authenticated-orcid":false,"given":"Michael H.","family":"Albert","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, Dr von Hauner University Children\u2019s Hospital, Ludwig-Maximilians-Universit\u00e4t, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0158-8147","authenticated-orcid":false,"given":"Sung-Yun","family":"Pai","sequence":"additional","affiliation":[{"name":"2Immune Deficiency Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"1","key":"2025070311210968300_bib1","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/S0022-3476(80)80133-8","article-title":"The Wiskott-Aldrich syndrome in the United States and Canada (1892\u20131979)","volume":"97","author":"Perry","year":"1980","journal-title":"J Pediatr"},{"issue":"17","key":"2025070311210968300_bib2","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1056\/NEJMp068209","article-title":"Lessons from the Wiskott\u2013Aldrich syndrome","volume":"355","author":"Puck","year":"2006","journal-title":"N Engl J Med"},{"key":"2025070311210968300_bib3","first-page":"212","article-title":"Famili\u00e4rer, angeborener Morbus Werlhofii?","volume":"68","author":"Wiskott","year":"1937","journal-title":"Monatsschr Kinderheilkd"},{"issue":"2","key":"2025070311210968300_bib4","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1542\/peds.13.2.133","article-title":"Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea","volume":"13","author":"Aldrich","year":"1954","journal-title":"Pediatrics"},{"issue":"4","key":"2025070311210968300_bib5","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/0092-8674(94)90528-2","article-title":"Isolation of a novel gene mutated in Wiskott-Aldrich syndrome","volume":"78","author":"Derry","year":"1994","journal-title":"Cell"},{"issue":"4","key":"2025070311210968300_bib6","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1038\/ng0495-414","article-title":"X\u2013linked thrombocytopenia and Wiskott\u2013Aldrich syndrome are allelic diseases with mutations in the WASP gene","volume":"9","author":"Villa","year":"1995","journal-title":"Nat Genet"},{"issue":"8","key":"2025070311210968300_bib7","doi-asserted-by":"crossref","first-page":"3089","DOI":"10.1182\/blood.V90.8.3089","article-title":"Defective actin reorganization and polymerization of Wiskott-Aldrich T cells in response to CD3-mediated stimulation","volume":"90","author":"Gallego","year":"1997","journal-title":"Blood"},{"issue":"5","key":"2025070311210968300_bib8","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/S0092-8674(00)81050-8","article-title":"Wiskott\u2013Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization","volume":"84","author":"Symons","year":"1996","journal-title":"Cell"},{"issue":"1","key":"2025070311210968300_bib9","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1038\/s41467-017-01676-0","article-title":"Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells","volume":"8","author":"Lee","year":"2017","journal-title":"Nat Commun"},{"issue":"1","key":"2025070311210968300_bib10","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1182\/blood-2005-03-1219","article-title":"Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment","volume":"108","author":"Sabri","year":"2006","journal-title":"Blood"},{"issue":"D1","key":"2025070311210968300_bib11","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"2025070311210968300_bib12","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s004390050162","article-title":"Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product","volume":"98","author":"Schindelhauer","year":"1996","journal-title":"Hum Genet"},{"issue":"13","key":"2025070311210968300_bib13","doi-asserted-by":"crossref","first-page":"4010","DOI":"10.1182\/blood-2003-05-1592","article-title":"Mutations of the Wiskott-Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype\/genotype correlation","volume":"104","author":"Jin","year":"2004","journal-title":"Blood"},{"issue":"16","key":"2025070311210968300_bib14","doi-asserted-by":"crossref","first-page":"3231","DOI":"10.1182\/blood-2009-09-239087","article-title":"X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options","volume":"115","author":"Albert","year":"2010","journal-title":"Blood"},{"issue":"24","key":"2025070311210968300_bib15","doi-asserted-by":"crossref","first-page":"2504","DOI":"10.1182\/blood.2023021411","article-title":"Wiskott-Aldrich syndrome: a retrospective study on 577 patients defines the genotype as a predictive biomarker for disease severity and survival","volume":"143","author":"Vall\u00e9e","year":"2024","journal-title":"Blood"},{"issue":"1","key":"2025070311210968300_bib16","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1097\/MOH.0b013e32834114bc","article-title":"Clinical spectrum, pathophysiology and treatment of the Wiskott\u2013Aldrich syndrome","volume":"18","author":"Albert","year":"2011","journal-title":"Curr Opin Hematol"},{"issue":"5","key":"2025070311210968300_bib17","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1016\/j.jaci.2018.06.042","article-title":"One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years","volume":"142","author":"Elfeky","year":"2018","journal-title":"J Allergy Clin Immunol"},{"issue":"23","key":"2025070311210968300_bib18","doi-asserted-by":"crossref","first-page":"2094","DOI":"10.1182\/blood.2019002939","article-title":"Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report","volume":"135","author":"Burroughs","year":"2020","journal-title":"Blood"},{"issue":"13","key":"2025070311210968300_bib19","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1182\/blood.2021014687","article-title":"Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis","volume":"139","author":"Albert","year":"2022","journal-title":"Blood"},{"issue":"5","key":"2025070311210968300_bib20","doi-asserted-by":"crossref","first-page":"e239","DOI":"10.1016\/S2352-3026(19)30021-3","article-title":"Lentiviral haemopoietic stem\/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1\/2 clinical study","volume":"6","author":"Ferrua","year":"2019","journal-title":"Lancet Haematol"},{"issue":"1","key":"2025070311210968300_bib21","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/s41591-021-01641-x","article-title":"Long-term safety and efficacy of lentiviral hematopoietic stem\/progenitor cell gene therapy for Wiskott-Aldrich syndrome","volume":"28","author":"Magnani","year":"2022","journal-title":"Nat Med"},{"issue":"15","key":"2025070311210968300_bib22","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1182\/blood.2022019117","article-title":"Outcome of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome","volume":"142","author":"Labrosse","year":"2023","journal-title":"Blood"},{"issue":"3","key":"2025070311210968300_bib23","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1111\/bjh.18875","article-title":"Accelerated death of megakaryocytes from Wiskott\u2013Aldrich syndrome patients","volume":"202","author":"Obydennyi","year":"2023","journal-title":"Br J Haematol"},{"issue":"4","key":"2025070311210968300_bib24","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1160\/TH14-06-0503","article-title":"Wiskott-Aldrich syndrome iPS cells produce megakaryocytes with defects in cytoskeletal rearrangement and proplatelet formation","volume":"113","author":"Ingrungruanglert","year":"2015","journal-title":"Thromb Haemost"},{"issue":"4","key":"2025070311210968300_bib25","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1542\/peds.2008-0080","article-title":"Medical conditions affecting sports participation","volume":"121","author":"Rice","year":"2008","journal-title":"Pediatrics"},{"key":"2025070311210968300_bib26","author":"Anderson","year":"2017"},{"issue":"7","key":"2025070311210968300_bib27","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1007\/s10875-023-01525-4","article-title":"Dupilumab for post-hematopoietic cell transplantation dermatitis in Wiskott-Aldrich syndrome","volume":"43","author":"Adir","year":"2023","journal-title":"J Clin Immunol"},{"issue":"16","key":"2025070311210968300_bib28","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1182\/blood.2024024524","article-title":"Interleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series","volume":"144","author":"Naviglio","year":"2024","journal-title":"Blood"},{"issue":"3","key":"2025070311210968300_bib29","doi-asserted-by":"crossref","first-page":"820","DOI":"10.3324\/haematol.2019.223966","article-title":"Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial","volume":"105","author":"Zaninetti","year":"2020","journal-title":"Haematologica"},{"issue":"11","key":"2025070311210968300_bib30","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1182\/blood-2014-09-602573","article-title":"Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome\/X-linked thrombocytopenia","volume":"126","author":"Gerrits","year":"2015","journal-title":"Blood"},{"issue":"2","key":"2025070311210968300_bib31","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/bjh.17174","article-title":"Efficacy of romiplostim in treatment of thrombocytopenia in children with Wiskott\u2013Aldrich syndrome","volume":"192","author":"Khoreva","year":"2021","journal-title":"Br J Haematol"},{"issue":"3","key":"2025070311210968300_bib32","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1016\/j.jaip.2018.07.009","article-title":"Bleeding and splenectomy in Wiskott-Aldrich syndrome: a single-centre experience","volume":"7","author":"Rivers","year":"2019","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"1","key":"2025070311210968300_bib33","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/s10875-014-0105-5","article-title":"Hematopoietic stem cell transplantation for X-linked thrombocytopenia with mutations in the WAS gene","volume":"35","author":"Oshima","year":"2015","journal-title":"J Clin Immunol"},{"issue":"6 Pt 1","key":"2025070311210968300_bib34","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1016\/S0022-3476(05)82002-5","article-title":"A multiinstitutional survey of the Wiskott-Aldrich syndrome","volume":"125","author":"Sullivan","year":"1994","journal-title":"J Pediatr"},{"issue":"1","key":"2025070311210968300_bib35","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S1074-7613(02)00516-2","article-title":"The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse","volume":"18","author":"Badour","year":"2003","journal-title":"Immunity"},{"issue":"2","key":"2025070311210968300_bib36","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S1074-7613(02)00360-6","article-title":"Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation","volume":"17","author":"Dupr\u00e9","year":"2002","journal-title":"Immunity"},{"issue":"1","key":"2025070311210968300_bib37","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1111\/j.1365-2249.2004.02409.x","article-title":"Early deficit of lymphocytes in Wiskott\u2013Aldrich syndrome: possible role of WASP in human lymphocyte maturation","volume":"136","author":"Park","year":"2004","journal-title":"Clin Exp Immunol"},{"issue":"3","key":"2025070311210968300_bib38","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/nri2724","article-title":"WASP: a key immunological multitasker","volume":"10","author":"Thrasher","year":"2010","journal-title":"Nat Rev Immunol"},{"issue":"2","key":"2025070311210968300_bib39","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1182\/blood.V55.2.243.243","article-title":"The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets","volume":"55","author":"Ochs","year":"1980","journal-title":"Blood"},{"issue":"17","key":"2025070311210968300_bib40","doi-asserted-by":"crossref","first-page":"11351","DOI":"10.1073\/pnas.162376099","article-title":"Wiskott\u2013Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses","volume":"99","author":"Orange","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"2025070311210968300_bib41","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1084\/jem.20081773","article-title":"The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function","volume":"206","author":"Locci","year":"2009","journal-title":"J Exp Med"},{"key":"2025070311210968300_bib42","doi-asserted-by":"crossref","first-page":"817427","DOI":"10.3389\/fimmu.2022.817427","article-title":"IL-17-dependent dysregulated cutaneous immune homeostasis in the absence of the Wiskott\u2013Aldrich syndrome protein","volume":"13","author":"Herman","year":"2022","journal-title":"Front Immunol"},{"issue":"1","key":"2025070311210968300_bib43","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1111\/pde.15397","article-title":"Severe eczema in Wiskott\u2013Aldrich syndrome-related disorder successfully treated with dupilumab","volume":"41","author":"Alzahrani","year":"2024","journal-title":"Pediatr Dermatol"},{"key":"2025070311210968300_bib44","doi-asserted-by":"crossref","first-page":"363","DOI":"10.2147\/TACG.S213920","article-title":"Autoimmunity in Wiskott\u2013Aldrich syndrome: updated perspectives","volume":"14","author":"Sudhakar","year":"2021","journal-title":"Appl Clin Genet"},{"issue":"2","key":"2025070311210968300_bib45","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1084\/jem.20061338","article-title":"The Wiskott-Aldrich syndrome protein is required for the function of CD4+CD25+Foxp3+ regulatory T cells","volume":"204","author":"Maillard","year":"2007","journal-title":"J Exp Med"},{"issue":"3","key":"2025070311210968300_bib46","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1182\/blood-2004-03-1003","article-title":"Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response","volume":"105","author":"Westerberg","year":"2005","journal-title":"Blood"},{"issue":"2","key":"2025070311210968300_bib47","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.clim.2011.10.001","article-title":"Development of IgA nephropathy-like glomerulonephritis associated with Wiskott\u2013Aldrich syndrome protein deficiency","volume":"142","author":"Shimizu","year":"2012","journal-title":"Clin Immunol"},{"issue":"1","key":"2025070311210968300_bib48","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1007\/s13730-021-00631-9","article-title":"A case of early recurrent immunoglobulin A nephropathy and T-cell-mediated rejection in a transplant patient with Wiskott\u2013Aldrich syndrome","volume":"11","author":"Yamaguchi","year":"2022","journal-title":"CEN Case Rep"},{"issue":"1","key":"2025070311210968300_bib49","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s10875-013-9964-4","article-title":"Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia","volume":"34","author":"Hoshino","year":"2014","journal-title":"J Clin Immunol"},{"issue":"13","key":"2025070311210968300_bib50","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.2169\/internalmedicine.55.6337","article-title":"Successful long-term graft survival of a renal transplantation patient with Wiskott-Aldrich syndrome","volume":"55","author":"Kai","year":"2016","journal-title":"Intern Med"},{"issue":"1","key":"2025070311210968300_bib51","doi-asserted-by":"crossref","first-page":"3743","DOI":"10.1038\/s41467-022-31415-z","article-title":"WASp modulates RPA function on single-stranded DNA in response to replication stress and DNA damage","volume":"13","author":"Han","year":"2022","journal-title":"Nat Commun"},{"issue":"7583","key":"2025070311210968300_bib52","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1016\/S0140-6736(68)92672-X","article-title":"Bone-marrow transplantation in a patient with the Wiskott-Aldrich syndrome","volume":"2","author":"Bach","year":"1968","journal-title":"Lancet"},{"issue":"17","key":"2025070311210968300_bib53","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1056\/NEJM197804272981701","article-title":"Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone-marrow transplantation","volume":"298","author":"Parkman","year":"1978","journal-title":"N Engl J Med"},{"issue":"4","key":"2025070311210968300_bib54","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1182\/blood.V57.4.692.692","article-title":"Reconstitution of normal megakaryocytopoiesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myeloablation and immunosuppression with busulfan and cyclophosphamide","volume":"57","author":"Kapoor","year":"1981","journal-title":"Blood"},{"issue":"6","key":"2025070311210968300_bib55","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1182\/blood.V97.6.1598","article-title":"Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program","volume":"97","author":"Filipovich","year":"2001","journal-title":"Blood"},{"issue":"14","key":"2025070311210968300_bib56","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1182\/blood.2022015506","article-title":"Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity, an EBMT IEWP study","volume":"140","author":"Albert","year":"2022","journal-title":"Blood"},{"issue":"1","key":"2025070311210968300_bib57","doi-asserted-by":"crossref","first-page":"100191","DOI":"10.1016\/j.jacig.2023.100191","article-title":"Allogeneic hematopoietic stem cell transplantation outcome in oldest known surviving patients with Wiskott-Aldrich syndrome","volume":"3","author":"Anantharachagan","year":"2024","journal-title":"J Allergy Clin Immunol Glob"},{"issue":"10","key":"2025070311210968300_bib58","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1016\/j.bbmt.2020.07.003","article-title":"Outcomes after haploidentical stem cell transplantation with post-transplantation cyclophosphamide in patients with primary immunodeficiency diseases","volume":"26","author":"Fernandes","year":"2020","journal-title":"Biol Blood Marrow Transpl"},{"issue":"3","key":"2025070311210968300_bib59","first-page":"172.e171","article-title":"Post-transplant immunosuppression after TCR\u03b1\u03b2\/CD19 graft depletion does not improve HSCT outcomes in primary immunodeficiency: post-transplant IST after TCR\u03b1\u03b2 depletion in PID","volume":"28","author":"Laberko","year":"2021","journal-title":"Transplant Cell Ther"},{"issue":"4","key":"2025070311210968300_bib60","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1016\/j.jaci.2017.07.008","article-title":"T-cell receptor \u03b1\u03b2+ and CD19+ cell\u2013depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency","volume":"141","author":"Shah","year":"2018","journal-title":"J Allergy Clin Immunol"},{"issue":"7","key":"2025070311210968300_bib61","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1016\/j.bbmt.2018.03.006","article-title":"A conditioning regimen with plerixafor is safe and improves the outcome of TCR\u03b1\u03b2+ and CD19+ cell-depleted stem cell transplantation in patients with Wiskott-Aldrich syndrome","volume":"24","author":"Balashov","year":"2018","journal-title":"Biol Blood Marrow Transpl"},{"issue":"10","key":"2025070311210968300_bib62","doi-asserted-by":"crossref","first-page":"4139","DOI":"10.1182\/blood-2008-02-140715","article-title":"WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function","volume":"112","author":"Westerberg","year":"2008","journal-title":"Blood"},{"issue":"6","key":"2025070311210968300_bib63","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1182\/blood-2010-11-319376","article-title":"Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study","volume":"118","author":"Moratto","year":"2011","journal-title":"Blood"},{"issue":"1","key":"2025070311210968300_bib64","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1182\/blood-2007-03-076679","article-title":"Long-term outcome following hematopoietic stem cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and the European Group for Blood and Marrow Transplantation","volume":"111","author":"Ozsahin","year":"2008","journal-title":"Blood"},{"issue":"9915","key":"2025070311210968300_bib65","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1016\/S0140-6736(13)62069-3","article-title":"Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study","volume":"383","author":"G\u00fcng\u00f6r","year":"2014","journal-title":"Lancet"},{"issue":"9","key":"2025070311210968300_bib66","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1038\/s41409-021-01378-8","article-title":"EBMT\/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity","volume":"56","author":"Lankester","year":"2021","journal-title":"Bone Marrow Transpl"},{"issue":"19","key":"2025070311210968300_bib67","doi-asserted-by":"crossref","first-page":"5137","DOI":"10.1182\/bloodadvances.2024013275","article-title":"Association of busulfan exposure and outcomes after HCT for patients with an inborn error of immunity","volume":"8","author":"Bogn\u00e0r","year":"2024","journal-title":"Blood Adv"},{"issue":"4","key":"2025070311210968300_bib68","doi-asserted-by":"crossref","first-page":"259.e1","DOI":"10.1016\/j.jtct.2025.02.002","article-title":"Younger children with nonmalignant disease have increased incidence of mixed myeloid chimerism after allogeneic hematopoietic cell transplantation with busulfan-based conditioning","volume":"31","author":"Dvorak","year":"2025","journal-title":"Transpl Cell Ther"},{"issue":"3","key":"2025070311210968300_bib69","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/s10928-024-09915-w","article-title":"Maximum a posteriori Bayesian methods out-perform non-compartmental analysis for busulfan precision dosing","volume":"51","author":"Hughes","year":"2024","journal-title":"J Pharmacokinet Pharmacodyn"},{"issue":"20","key":"2025070311210968300_bib70","doi-asserted-by":"crossref","first-page":"1918","DOI":"10.1056\/NEJMoa1003548","article-title":"Stem-cell gene therapy for the Wiskott-Aldrich syndrome","volume":"363","author":"Boztug","year":"2010","journal-title":"N Engl J Med"},{"issue":"227","key":"2025070311210968300_bib71","doi-asserted-by":"crossref","first-page":"227ra33","DOI":"10.1126\/scitranslmed.3007280","article-title":"Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity","volume":"6","author":"Braun","year":"2014","journal-title":"Sci Transl Med"},{"issue":"5644","key":"2025070311210968300_bib72","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1126\/science.1088547","article-title":"LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1","volume":"302","author":"Hacein-Bey-Abina","year":"2003","journal-title":"Science"},{"issue":"9","key":"2025070311210968300_bib73","doi-asserted-by":"crossref","first-page":"3143","DOI":"10.1172\/JCI35798","article-title":"Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients","volume":"118","author":"Howe","year":"2008","journal-title":"J Clin Invest"},{"issue":"4","key":"2025070311210968300_bib74","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1038\/nm1393","article-title":"Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1","volume":"12","author":"Ott","year":"2006","journal-title":"Nat Med"},{"issue":"6148","key":"2025070311210968300_bib75","doi-asserted-by":"crossref","first-page":"1233151","DOI":"10.1126\/science.1233151","article-title":"Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome","volume":"341","author":"Aiuti","year":"2013","journal-title":"Science"},{"issue":"15","key":"2025070311210968300_bib76","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1001\/jama.2015.3253","article-title":"Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome","volume":"313","author":"Hacein-Bey Abina","year":"2015","journal-title":"JAMA"},{"key":"2025070311210968300_bib77","author":"Fondazione Telethon submits EU marketing authorization application for etuvetidigene autotemcel gene therapy for the treatment of Wiskott-Aldrich syndrome","year":"3  2025"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/146\/1\/41\/2383711\/blood_bld-2024-026288-c-main.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/146\/1\/41\/2383711\/blood_bld-2024-026288-c-main.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T15:21:22Z","timestamp":1751556082000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/146\/1\/41\/536678\/How-I-treat-Wiskott-Aldrich-syndrome"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,3]]},"references-count":77,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,7,3]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.2024026288","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,7,3]]},"published":{"date-parts":[[2025,7,3]]}}}