Hematopoietic stem cell transplantation in serine/threonine kinase 4 (STK4) deficiency: Report of two cases and literature review

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dc.contributor.authorUygun, Vedat
dc.contributor.authorKeles, Sevgi
dc.contributor.authorDaloglu, Hayriye
dc.contributor.authorOzturkmen, Seda
dc.contributor.authorYalcin, Koray
dc.contributor.authorKarasu, Gulsun
dc.contributor.authorYesilipek, Akif
dc.date.accessioned2024-02-23T14:24:37Z
dc.date.available2024-02-23T14:24:37Z
dc.date.issued2023
dc.departmentNEÜen_US
dc.description.abstractBackground Serine/threonine kinase 4 (STK4) deficiency is a combined immunodeficiency (CID) characterized by early onset recurrent bacterial, viral, and fungal infections. Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative therapy for CID; however, little is known about the necessity and benefits of HSCT in patients with STK4 deficiency. Methods We report two siblings with STK4 deficiency transplanted from two unrelated donors with the same conditioning regimen. Results In the conditioning regimen, rituximab was given on Day -11 (375 mg/m(2)), and sirolimus was added on the same day. Busulfan was administered at a myeloablative dose (3.2 mg/kg; Days -7 to -4) with 150 mg/m(2) of fludarabine (Days -7 to -3). They were transplanted with peripheral blood stem cells, and graft-versus-host disease (GVHD) prophylaxis was administered with 10 mg/m(2) methotrexate on Days 1, 3, and 6. In addition, mycophenolate mofetil (MMF) was started on Day 1 with ongoing use of sirolimus. We did not encounter veno-occlusive disease (VOD), high-grade acute GVHD, or significant organ toxicity in either patient. Both patients were well at the end of the first year after HSCT with complete donor chimerism. Conclusions Serine/threonine kinase 4 deficiency is a disease with high mortality post-HSCT; therefore, the conditioning regimen and GVHD prophylaxis strategies are important considerations in these patients. In our opinion, the conditioning regimen, which includes rituximab and busulfan and fludarabine (BU-FLU), GVHD prophylaxis with sirolimus and MMF, and short-term methotrexate, offers favorable outcomes and is well tolerated in our STK4-deficient patients.en_US
dc.identifier.doi10.1111/petr.14439
dc.identifier.issn1397-3142
dc.identifier.issn1399-3046
dc.identifier.issue2en_US
dc.identifier.pmid36394186en_US
dc.identifier.scopus2-s2.0-85142226583en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1111/petr.14439
dc.identifier.urihttps://hdl.handle.net/20.500.12452/14032
dc.identifier.volume27en_US
dc.identifier.wosWOS:000884588000001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofPediatric Transplantationen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectChildrenen_US
dc.subjectHematopoietic Stem Cell Transplantationen_US
dc.subjectStk4 Deficiencyen_US
dc.titleHematopoietic stem cell transplantation in serine/threonine kinase 4 (STK4) deficiency: Report of two cases and literature reviewen_US
dc.typeReview Articleen_US

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