{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T12:48:11Z","timestamp":1785415691911,"version":"3.56.0"},"reference-count":43,"publisher":"Rockefeller University Press","issue":"5","license":[{"start":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T00:00:00Z","timestamp":1785283200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005722","name":"LMU Munich","doi-asserted-by":"publisher","award":["1149"],"award-info":[{"award-number":["1149"]}],"id":[{"id":"10.13039\/501100005722","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR CARMIL2"],"award-info":[{"award-number":["ANR CARMIL2"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-21-CE15-0034"],"award-info":[{"award-number":["ANR-21-CE15-0034"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Robert Debr\u00e9 association"},{"name":"German Society for Allergology and Clinical Immunology"},{"DOI":"10.13039\/501100012616","name":"Schlumberger Foundation","doi-asserted-by":"publisher","award":["FSER202302017062"],"award-info":[{"award-number":["FSER202302017062"]}],"id":[{"id":"10.13039\/501100012616","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius Stiftung","doi-asserted-by":"publisher","award":["2017_A110"],"award-info":[{"award-number":["2017_A110"]}],"id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]},{"name":"German Federal Ministry of Education and Research","award":["BMBF 01GM2206D"],"award-info":[{"award-number":["BMBF 01GM2206D"]}]}],"content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,9,7]]},"abstract":"<jats:p>Biallelic loss-of-function variants in capping protein regulator and myosin 1 linker 2 (CARMIL2) cause a complex disorder of immune dysregulation hallmarked by susceptibility to infections, inflammatory bowel and skin disease, and Epstein-Barr virus\u2013positive smooth muscle tumors (EBV+ SMTs). We report a multicenter retrospective study to evaluate hematopoietic cell transplantation (HCT) outcomes in CARMIL2-deficient patients. 17 patients underwent 19 HCTs, with a total follow-up of 768 mo and a median follow-up of 37 mo (range 1\u2013195). Three patients died during the early posttransplant period (overall survival, 82.4%), and two required a second HCT for graft failure. Despite limitations due to cohort size and high pre-transplant morbidity in individual patients, HCT improved all major disease manifestations, including infections, inflammatory disease, and previously treatment-refractory EBV+ SMTs. No patient required immunoglobulin replacement after HCT, and no detrimental effects of mixed chimerism were noted. Allogeneic HCT is therefore a curative option for patients with CARMIL2 deficiency, which should be offered upon diagnosis.<\/jats:p>","DOI":"10.70962\/jhi.20250200","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T06:21:34Z","timestamp":1783578094000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency"],"prefix":"10.70962","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0979-7274","authenticated-orcid":true,"given":"Johannes","family":"Raedler","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05591te55","id-type":"ROR","asserted-by":"publisher"}],"name":"Dr. von Hauner Children\u2019s Hospital, LMU University Hospital, LMU Medizin, LMU Munich 1 Department of Pediatrics, , Munich,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0421-6610","authenticated-orcid":true,"given":"Florian","family":"Gothe","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05591te55","id-type":"ROR","asserted-by":"publisher"}],"name":"Dr. von Hauner Children\u2019s Hospital, LMU University Hospital, LMU Medizin, LMU Munich 1 Department of Pediatrics, , Munich,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0158-7790","authenticated-orcid":true,"given":"Thomas","family":"Magg","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05591te55","id-type":"ROR","asserted-by":"publisher"}],"name":"Dr. von Hauner Children\u2019s Hospital, LMU University Hospital, LMU Medizin, LMU Munich 1 Department of Pediatrics, , Munich,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7395-8602","authenticated-orcid":true,"given":"Philipp","family":"Peters","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05591te55","id-type":"ROR","asserted-by":"publisher"}],"name":"Dr. von Hauner Children\u2019s Hospital, LMU University Hospital, LMU Medizin, LMU Munich 1 Department of Pediatrics, , Munich,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9040-3134","authenticated-orcid":true,"given":"Karen Helene","family":"Bronken Martinsen","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00j9c2840","id-type":"ROR","asserted-by":"publisher"}],"name":"Oslo University Hospital Rikshospitalet 2 Department of Pediatric and Adolescent Medicine, , Oslo,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2424-4654","authenticated-orcid":true,"given":"Ursula","family":"Holzer","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03esvmb28","id-type":"ROR","asserted-by":"publisher"}],"name":"Children\u2019s Hospital, University of T\u00fcbingen 3 , T\u00fcbingen,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5821-3963","authenticated-orcid":true,"given":"Ayca","family":"Kiykim","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01dzn5f42","id-type":"ROR","asserted-by":"publisher"}],"name":"Istanbul University-Cerrahpasa, Cerrahpasa School of Medicine 4 Pediatric Immunology and Allergy, , Istanbul,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8433-1883","authenticated-orcid":true,"given":"Ayse","family":"Kalyoncu Ucar","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01dzn5f42","id-type":"ROR","asserted-by":"publisher"}],"name":"Cerrahpasa School of Medicine, Istanbul University-Cerrahpasa 5 Radiology, , Istanbul,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8109-8502","authenticated-orcid":true,"given":"Roshini S.","family":"Abraham","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/003rfsp33","id-type":"ROR","asserted-by":"publisher"}],"name":"Nationwide Children\u2019s Hospital 6 Deptartment of Pathology and Laboratory Medicine, , Columbus, OH,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3371-2920","authenticated-orcid":true,"given":"Hemalatha G.","family":"Rangarajan","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/003rfsp33","id-type":"ROR","asserted-by":"publisher"}],"name":"Nationwide Children\u2019s Hospital 7 Division of Hematology, Oncology and Bone Marrow Transplant, Department of Pediatrics, , Columbus, OH,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6995-3262","authenticated-orcid":true,"given":"Adeeb","family":"NaserEddin","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01cqmqj90","id-type":"ROR","asserted-by":"publisher"}],"name":"Hadassah Medical Center, Hebrew University 8 Department of Bone Marrow Transplantation, Faculty of Medicine, , Jerusalem,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4923-3660","authenticated-orcid":true,"given":"Polina","family":"Stepensky","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01cqmqj90","id-type":"ROR","asserted-by":"publisher"}],"name":"Hadassah Medical Center, Hebrew University 8 Department of Bone Marrow Transplantation, Faculty of Medicine, , Jerusalem,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7549-0935","authenticated-orcid":true,"given":"Irina","family":"Zaidman","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01cqmqj90","id-type":"ROR","asserted-by":"publisher"}],"name":"Hadassah Medical Center, Hebrew University 8 Department of Bone Marrow Transplantation, Faculty of Medicine, , Jerusalem,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4292-6376","authenticated-orcid":true,"given":"Ehud","family":"Even-Or","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01cqmqj90","id-type":"ROR","asserted-by":"publisher"}],"name":"Hadassah Medical Center, Hebrew University 8 Department of Bone Marrow Transplantation, Faculty of Medicine, , Jerusalem,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1739-1090","authenticated-orcid":true,"given":"Joern-Sven","family":"Kuehl","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/028hv5492","id-type":"ROR","asserted-by":"publisher"}],"name":"Hospital for Children and Adolescents, Leipzig University Hospital 9 Department of Women and Child Health, , Leipzig,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7680-0990","authenticated-orcid":true,"given":"Daniel","family":"Graefe","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/028hv5492","id-type":"ROR","asserted-by":"publisher"}],"name":"Institut for Pediatric Radiology, Leipzig University Hospital 10 , Leipzig,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3017-2474","authenticated-orcid":true,"given":"Venetia","family":"Bigley","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05p40t847","id-type":"ROR","asserted-by":"publisher"}],"name":"Translational and Clinical Research Institute and NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust 11 , Newcastle upon Tyne,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1368-104X","authenticated-orcid":true,"given":"Christo","family":"Tsilifis","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/0483p1w82","id-type":"ROR","asserted-by":"publisher"}],"name":"Paediatric Hematopoietic Stem Cell Transplant Unit, Great North Children\u2019s Hospital, Newcastle Hospitals NHS Foundation Trust 12 , Newcastle upon Tyne,","place":["UK"]},{"name":"Translational and Clinical Research Institute, Newcastle University 13 , Newcastle upon Tyne,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0033-740X","authenticated-orcid":true,"given":"Anders","family":"Fasth","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01tm6cn81","id-type":"ROR","asserted-by":"publisher"}],"name":"Institute of Clinical Sciences, University of Gothenburg 14 Department of Pediatrics, , Gothenburg,","place":["Sweden"]},{"name":"Queen Silvia Children\u2019s Hospital 15 Department of Pediatric Rheumatology and Immunology, , Gothenburg,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0030-8094","authenticated-orcid":true,"given":"Nizar","family":"Mahlaoui","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00pg5jh14","id-type":"ROR","asserted-by":"publisher"}],"name":"French National Reference Center for Primary Immune Deficiencies, Necker Enfants Malades University Hospital, Assistance Publique-H\u00f4pitaux de Paris 16 , Paris,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/00pg5jh14","id-type":"ROR","asserted-by":"publisher"}],"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Necker-Enfants Malades 17 Pediatric Immunology-Hematology and Rheumatology Unit, , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9391-0761","authenticated-orcid":true,"given":"Oliver","family":"Wegehaupt","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03vzbgh69","id-type":"ROR","asserted-by":"publisher"}],"name":"Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg 18 Faculty of Medicine, , Freiburg,","place":["Germany"]},{"id":[{"id":"https:\/\/ror.org\/03vzbgh69","id-type":"ROR","asserted-by":"publisher"}],"name":"Children\u2019s Hospital, Medical Center, University of Freiburg 19 Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Faculty of Medicine, , Freiburg,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6217-1556","authenticated-orcid":true,"given":"Carsten","family":"Speckmann","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03vzbgh69","id-type":"ROR","asserted-by":"publisher"}],"name":"Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, University of Freiburg 18 Faculty of Medicine, , Freiburg,","place":["Germany"]},{"id":[{"id":"https:\/\/ror.org\/03vzbgh69","id-type":"ROR","asserted-by":"publisher"}],"name":"Children\u2019s Hospital, Medical Center, University of Freiburg 19 Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Faculty of Medicine, , Freiburg,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7782-4169","authenticated-orcid":true,"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[{"name":"The Rockefeller University 20 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, , New York, NY,","place":["USA"]},{"id":[{"id":"https:\/\/ror.org\/05rq3rb55","id-type":"ROR","asserted-by":"publisher"}],"name":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163 21 , Paris,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/00pg5jh14","id-type":"ROR","asserted-by":"publisher"}],"name":"Service de P\u00e9diatrie, Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Necker-Enfants Malades 22 , Paris,","place":["France"]},{"name":"Howard Hughes Medical Institute 23 , New York, NY,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0956-0445","authenticated-orcid":true,"given":"Christoph","family":"Klein","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05591te55","id-type":"ROR","asserted-by":"publisher"}],"name":"Dr. von Hauner Children\u2019s Hospital, LMU University Hospital, LMU Medizin, LMU Munich 1 Department of Pediatrics, , Munich,","place":["Germany"]},{"name":"German Center for Child and Adolescent Health 24 , Munich,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8941-0935","authenticated-orcid":true,"given":"B\u00e9n\u00e9dicte","family":"Neven","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00pg5jh14","id-type":"ROR","asserted-by":"publisher"}],"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Necker-Enfants Malades 17 Pediatric Immunology-Hematology and Rheumatology Unit, , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4020-824X","authenticated-orcid":true,"given":"Vivien","family":"B\u00e9ziat","sequence":"additional","affiliation":[{"name":"The Rockefeller University 20 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, , New York, NY,","place":["USA"]},{"id":[{"id":"https:\/\/ror.org\/05rq3rb55","id-type":"ROR","asserted-by":"publisher"}],"name":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163 21 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6393-0198","authenticated-orcid":true,"given":"Romain","family":"L\u00e9vy","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00pg5jh14","id-type":"ROR","asserted-by":"publisher"}],"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Necker-Enfants Malades 17 Pediatric Immunology-Hematology and Rheumatology Unit, , Paris,","place":["France"]},{"name":"The Rockefeller University 20 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, , New York, NY,","place":["USA"]},{"id":[{"id":"https:\/\/ror.org\/05rq3rb55","id-type":"ROR","asserted-by":"publisher"}],"name":"Universit\u00e9 Paris Cit\u00e9, Institut Imagine, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163 21 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9644-2003","authenticated-orcid":true,"given":"Fabian","family":"Hauck","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05591te55","id-type":"ROR","asserted-by":"publisher"}],"name":"Dr. von Hauner Children\u2019s Hospital, LMU University Hospital, LMU Medizin, LMU Munich 1 Department of Pediatrics, , Munich,","place":["Germany"]},{"name":"University Children\u2019s Hospital Mannheim, Ruprecht-Karls-Universit\u00e4t Heidelberg 25 , Heidelberg,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2026,7,29]]},"reference":[{"key":"2026072909124384700_bib1","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/j.gene.2004.09.004","article-title":"Identification, expression analysis and polymorphism of a novel RLTPR gene encoding a RGD motif, tropomodulin domain and proline\/leucine-rich regions","volume":"343","author":"Matsuzaka","year":"2004","journal-title":"Gene"},{"key":"2026072909124384700_bib2","doi-asserted-by":"publisher","first-page":"2413","DOI":"10.1084\/jem.20160576","article-title":"Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations","volume":"213","author":"Wang","year":"2016","journal-title":"J. Exp. Med."},{"key":"2026072909124384700_bib3","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1002\/mgg3.237","article-title":"A potential founder variant in CARMIL2\/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction","volume":"4","author":"Sorte","year":"2016","journal-title":"Mol. Genet. Genomic Med."},{"key":"2026072909124384700_bib4","doi-asserted-by":"publisher","first-page":"14209","DOI":"10.1038\/ncomms14209","article-title":"A human immunodeficiency syndrome caused by mutations in CARMIL2","volume":"8","author":"Schober","year":"2017","journal-title":"Nat. Commun."},{"key":"2026072909124384700_bib5","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20220275","article-title":"Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency","volume":"220","author":"L\u00e9vy","year":"2023","journal-title":"J. Exp. Med."},{"key":"2026072909124384700_bib6","doi-asserted-by":"publisher","first-page":"1004","DOI":"10.1111\/all.15010","article-title":"Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency","volume":"77","author":"Kolukisa","year":"2022","journal-title":"Allergy"},{"key":"2026072909124384700_bib7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/15513815.2021.2000533","article-title":"CARMIL2 immunodeficiency with Epstein Barr virus associated smooth muscle tumor (EBV-SMT). Report of a case with comprehensive review of literature","volume":"41","author":"Vij","year":"2021","journal-title":"Fetal Pediatr. Pathol."},{"key":"2026072909124384700_bib8","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000002311","article-title":"Successful allogeneic hematopoietic stem cell transplant for CARMIL2 deficiency","volume":"43","author":"Rastogi","year":"2021","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"2026072909124384700_bib9","doi-asserted-by":"publisher","first-page":"884","DOI":"10.3389\/fimmu.2020.00884","article-title":"A novel pathogenic variant in CARMIL2 (RLTPR) causing CARMIL2 deficiency and EBV-associated smooth muscle tumors","volume":"11","author":"Yonkof","year":"2020","journal-title":"Front. Immunol."},{"key":"2026072909124384700_bib10","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1111\/pde.14173","article-title":"CARMIL2-related immunodeficiency manifesting with photosensitivity","volume":"37","author":"Shayegan","year":"2020","journal-title":"Pediatr. Dermatol."},{"key":"2026072909124384700_bib11","doi-asserted-by":"publisher","first-page":"1788","DOI":"10.1093\/ibd\/izz103","article-title":"CARMIL2 deficiency presenting as very early onset inflammatory bowel disease","volume":"25","author":"Magg","year":"2019","journal-title":"Inflamm. Bowel Dis."},{"key":"2026072909124384700_bib12","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1007\/s10875-019-00631-6","article-title":"A unique presentation of infantile-onset colitis and eosinophilic disease without recurrent infections resulting from a novel homozygous CARMIL2 variant","volume":"39","author":"Kurolap","year":"2019","journal-title":"J. Clin. Immunol."},{"key":"2026072909124384700_bib13","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1007\/s10875-019-00628-1","article-title":"A novel CARMIL2 mutation resulting in combined immunodeficiency manifesting with dermatitis, fungal, and viral skin infections as well as selective antibody deficiency","volume":"39","author":"Atschekzei","year":"2019","journal-title":"J. Clin. Immunol."},{"key":"2026072909124384700_bib14","doi-asserted-by":"publisher","first-page":"203","DOI":"10.3389\/fimmu.2018.00203","article-title":"Novel CARMIL2 mutations in patients with variable clinical dermatitis, infections, and combined immunodeficiency","volume":"9","author":"Alazami","year":"2018","journal-title":"Front. Immunol."},{"key":"2026072909124384700_bib15","doi-asserted-by":"publisher","first-page":"108228","DOI":"10.1016\/j.clim.2019.06.004","article-title":"Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations","volume":"208","author":"Maccari","year":"2019","journal-title":"Clin. Immunol."},{"key":"2026072909124384700_bib16","doi-asserted-by":"publisher","first-page":"368","DOI":"10.3389\/fimmu.2018.00368","article-title":"Epstein-barr Virus+ smooth muscle tumors as manifestation of primary immunodeficiency disorders","volume":"9","author":"Magg","year":"2018","journal-title":"Front. Immunol."},{"key":"2026072909124384700_bib17","doi-asserted-by":"publisher","first-page":"2437","DOI":"10.1084\/jem.20160579","article-title":"The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells","volume":"213","author":"Roncagalli","year":"2016","journal-title":"J. Exp. Med."},{"key":"2026072909124384700_bib18","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1038\/ni.2634","article-title":"The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells","volume":"14","author":"Liang","year":"2013","journal-title":"Nat. Immunol."},{"key":"2026072909124384700_bib19","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1111\/cei.13432","article-title":"Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation","volume":"200","author":"Shamriz","year":"2020","journal-title":"Clin. Exp. Immunol."},{"key":"2026072909124384700_bib20","doi-asserted-by":"publisher","first-page":"3812","DOI":"10.1016\/j.cell.2021.06.004","article-title":"Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy","volume":"184","author":"B\u00e9ziat","year":"2021","journal-title":"Cell"},{"key":"2026072909124384700_bib21","doi-asserted-by":"publisher","first-page":"552","DOI":"10.3389\/fped.2019.00552","article-title":"Hematopoietic stem cell transplantation for combined immunodeficiencies, on behalf of IEWP-EBMT","volume":"7","author":"Neven","year":"2019","journal-title":"Front. Pediatr."},{"key":"2026072909124384700_bib22","doi-asserted-by":"publisher","first-page":"1666","DOI":"10.1182\/blood.2020008187","article-title":"How I use allogeneic HSCT for adults with inborn errors of immunity","volume":"138","author":"Burns","year":"2021","journal-title":"Blood"},{"key":"2026072909124384700_bib23","doi-asserted-by":"publisher","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."},{"key":"2026072909124384700_bib24","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-031-44080-9","volume-title":"The EBMT Handbook","author":"Sureda","year":"2024","edition":"8th edition"},{"key":"2026072909124384700_bib25","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1111\/trf.17766","article-title":"Autoantibody profiles in intravenous immunoglobulin preparations: A possible cause of mistaken autoimmunity diagnosis","volume":"64","author":"Miyamoto","year":"2024","journal-title":"Transfusion"},{"key":"2026072909124384700_bib26","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1159\/000351326","article-title":"Epstein-Barr virus-associated smooth muscle tumours after transplantation, infection with human immunodeficiency virus and congenital immunodeficiency syndromes","volume":"80","author":"Hussein","year":"2013","journal-title":"Pathobiology"},{"key":"2026072909124384700_bib27","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1056\/NEJM199501053320103","article-title":"Association of Epstein-Barr virus with leiomyosarcomas in young people with AIDS","volume":"332","author":"McClain","year":"1995","journal-title":"N. Engl. J. Med."},{"key":"2026072909124384700_bib28","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.1016\/j.jaci.2019.12.896","article-title":"Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score","volume":"145","author":"Tesch","year":"2020","journal-title":"J. Allergy Clin. Immunol."},{"key":"2026072909124384700_bib29","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1182\/blood-2018-09-876284","article-title":"The Hematopoietic Cell Transplant Comorbidity Index predicts survival after allogeneic transplant for nonmalignant diseases","volume":"133","author":"Thakar","year":"2019","journal-title":"Blood"},{"key":"2026072909124384700_bib30","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.jaip.2017.07.045","article-title":"Allogeneic stem cell transplantation in adolescents and young adults with primary immunodeficiencies","volume":"6","author":"Albert","year":"2018","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"2026072909124384700_bib31","doi-asserted-by":"publisher","first-page":"e526","DOI":"10.1016\/S2352-3026(16)30114-4","article-title":"Association of busulfan exposure with survival and toxicity after haemopoietic cell transplantation in children and young adults: A multicentre, retrospective cohort analysis","volume":"3","author":"Bartelink","year":"2016","journal-title":"Lancet Haematol."},{"key":"2026072909124384700_bib32","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1002\/cpt.1715","article-title":"Proposed therapeutic range of treosulfan in reduced toxicity pediatric allogeneic hematopoietic stem cell transplant conditioning: Results from a prospective trial","volume":"108","author":"Chiesa","year":"2020","journal-title":"Clin. Pharmacol. Ther."},{"key":"2026072909124384700_bib33","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1091\/mbc.e17-01-0019","article-title":"CARMIL family proteins as multidomain regulators of actin-based motility","volume":"28","author":"Stark","year":"2017","journal-title":"Mol. Biol. Cell"},{"key":"2026072909124384700_bib34","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/j.jaad.2024.09.029","article-title":"Dupilumab in atopic-dermatitis-like eczema associated with inborn errors of immunity: A nationwide study","volume":"92","author":"Guillemin","year":"2025","journal-title":"J. Am. Acad. Dermatol."},{"key":"2026072909124384700_bib35","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1007\/s10875-016-0360-8","article-title":"Resolution of multifocal Epstein-Barr virus-related smooth muscle tumor in a patient with GATA2 deficiency following hematopoietic stem cell transplantation","volume":"37","author":"Parta","year":"2017","journal-title":"J. Clin. Immunol."},{"key":"2026072909124384700_bib36","doi-asserted-by":"publisher","first-page":"2638","DOI":"10.1182\/blood.2020006738","article-title":"Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency","volume":"136","author":"Ghosh","year":"2020","journal-title":"Blood"},{"key":"2026072909124384700_bib37","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1080\/1744666X.2020.1763792","article-title":"Malignancy post-hematopoietic stem cell transplant in patients with primary immunodeficiency","volume":"16","author":"Lum","year":"2020","journal-title":"Expert Rev. Clin. Immunol."},{"key":"2026072909124384700_bib38","doi-asserted-by":"publisher","first-page":"5452","DOI":"10.3389\/fimmu.2021.796065","article-title":"Rubella virus infected macrophages and neutrophils define patterns of granulomatous inflammation in inborn and acquired errors of immunity","volume":"12","author":"Perelygina","year":"2021","journal-title":"Front. Immunol."},{"key":"2026072909124384700_bib39","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1016\/j.iac.2015.05.004","article-title":"Eosinophilia associated with disorders of immune deficiency or immune dysregulation","volume":"35","author":"Williams","year":"2015","journal-title":"Immunol. Allergy Clin. North Am."},{"key":"2026072909124384700_bib40","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1111\/imr.12114","article-title":"Actin cytoskeletal defects in immunodeficiency","volume":"256","author":"Moulding","year":"2013","journal-title":"Immunol. Rev."},{"key":"2026072909124384700_bib41","doi-asserted-by":"publisher","first-page":"151413","DOI":"10.1016\/j.anndiagpath.2019.151413","article-title":"Peripheral eosinophilia in primary immunodeficiencies of actin dysregulation: A case series of Wiskott-aldrich syndrome, CARMIL2 and DOCK8 deficiency and review of the literature","volume":"43","author":"Kim","year":"2019","journal-title":"Ann. Diagn. Pathol."},{"key":"2026072909124384700_bib42","doi-asserted-by":"publisher","first-page":"1536","DOI":"10.1007\/s10875-021-01069-5","article-title":"Lineage-specific chimerism and outcome after hematopoietic stem cell transplantation for DOCK8 deficiency","volume":"41","author":"Raedler","year":"2021","journal-title":"J. Clin. Immunol."},{"key":"2026072909124384700_bib43","doi-asserted-by":"publisher","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"}],"container-title":["Journal of Human Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/rupress.org\/jhi\/article-pdf\/doi\/10.70962\/jhi.20250200\/2038804\/jhi_20250200.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rupress.org\/jhi\/article-pdf\/doi\/10.70962\/jhi.20250200\/2038804\/jhi_20250200.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T13:12:54Z","timestamp":1785330774000},"score":1,"resource":{"primary":{"URL":"https:\/\/rupress.org\/jhi\/article\/2\/5\/e20250200\/282868\/Allogeneic-hematopoietic-cell-transplantation-is"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,29]]},"references-count":43,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,9,7]]}},"URL":"https:\/\/doi.org\/10.70962\/jhi.20250200","relation":{},"ISSN":["3065-8993"],"issn-type":[{"value":"3065-8993","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,29]]},"article-number":"e20250200"}}