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dc.contributor.authorKuskonmaz, Baris
dc.contributor.authorAyvaz, deniz
dc.contributor.authorOkur, fatma visal
dc.contributor.authoraydın, burça
dc.contributor.authortezcan, ilhan
dc.contributor.authorUckan Çetinkaya, Duygu
dc.date.accessioned2022-10-12T13:12:04Z
dc.date.available2022-10-12T13:12:04Z
dc.date.issued2022-07
dc.identifier.urihttps://doi.org/10.1038/s41409-022-01613-w
dc.identifier.urihttp://hdl.handle.net/11655/26891
dc.description.abstractRAS guanyl-releasing protein 1 (RASGRP1) is a guanine-nucleotideexchange factor that is involved in lymphocyte development and function [1]. RASGRP1 converts the small GTPase RAS from an inactive GDP-bound state to an active GTP-bound state in response to lymphocyte activation. Activated RAS initiates a MAP-kinase cascade which leads to cytoskeletal reorganization and transcription of effector molecules [1, 2]. RASGRP1 deficiency was defined in human in 2016 [1]. It is shown to cause a combined type of primary immunodeficiency (PID) with susceptibility to Epstein-Barr virus infections [1]. Up to now, less than ten different cases of RASGRP1 deficiency have been defined [1–5]. The main clinical findings of patients include recurrent upper and lower respiratory infections, susceptibility to viral and opportunistic infections, hepatosplenomegaly, lymphadenopathy, EBV-associated lymphoproliferation, B cell lymphoma, and autoimmune features such as autoimmune cytopenia [1, 2, 4, 5]tr_TR
dc.language.isoentr_TR
dc.rightsinfo:eu-repo/semantics/openAccesstr_TR
dc.subjectHSCTtr_TR
dc.titleFirst allogeneic hematopoietic stem cell transplantation in RASGRP1 deficiency: long-term follow-uptr_TR
dc.typeinfo:eu-repo/semantics/articletr_TR
dc.relation.journalBone Marrow Transplanttr_TR
dc.contributor.departmentÇocuk Sağlığı ve Hastalıklarıtr_TR
dc.description.indexWoStr_TR
dc.fundingYoktr_TR


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