Novel frameshift autosomal recessive loss-of-function mutation in SMARCD2 encoding a chromatin remodeling factor mediates granulopoiesis

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dc.authoridFunda Erol Çipe / 0000-0002-9718-7507
dc.authorscopusidFunda Erol Çipe / 25824763200
dc.authorwosidFunda Erol Çipe / GDE-8701-2022
dc.contributor.authorYücel, Esra Özek
dc.contributor.authorKarakuş, İbrahim Serhat
dc.contributor.authorKrolo, Ana
dc.contributor.authorKıykım, Ayça
dc.contributor.authorHeredia, Raul Jimenez
dc.contributor.authorTamay, Zeynep
dc.contributor.authorErol Çipe, Funda
dc.contributor.authorKarakoç Aydıner, Elif
dc.contributor.authorÖzen, Ahmet
dc.contributor.authorKaraman, Serap
dc.contributor.authorBoztuğ, Kaan
dc.contributor.authorBarış, Safa
dc.date.accessioned2020-10-16T09:23:26Z
dc.date.available2020-10-16T09:23:26Z
dc.date.issued2021en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractPurpose: Recently, a new form of congenital neutropenia that is caused by germline biallelic loss-of-function mutations in the SMARCD2 gene was described in four patients. Given the rarity of the condition, the clinical spectrum of the disease has remained elusive. We here report a new patient with a novel frameshift mutation and compare our patient with the previously reported SMARCD2-mutant patients, aiming to provide a more comprehensive understanding of the natural course of the disease. Methods: Clinical and laboratory findings of all reported patients were reviewed. Next-generation sequencing was performed to identify the causative genetic defect. Data on the hematopoietic stem cell transplantation including stem cell sources, conditioning regimen, engraftment, graft-versus-host disease, and infections were also collected. Results: An 11-year-old female patient had a variety of infections including sepsis, deep tissue abscesses, otitis, pneumonia, gingivitis, and diarrhea since infancy. A novel homozygous mutation in SMARCD2 (c.93delG, p.Ala32Argfs*80) was detected. Bone marrow examination showed hypocellularity and decreased neutrophils with diminished granules and myeloid dysplasia, but no blast excess as in previously reported patients. The neutropenia was non-responsive even to higher doses of granulocyte colony-stimulating factor (G-CSF); therefore, the patient was transplanted at 10 years of age from a HLA-A allele–mismatched unrelated donor using a reduced toxicity conditioning regimen and recovered successfully. Compared with the previous four cases, our patient showed longer survival before transplantation without blastic transformation. Conclusion: Distinctive myeloid features and long-term follow-up including therapy options are presented for the newly described case of SMARCD2 deficiency. This disorder is apparent at infancy and requires early transplantation due to the unrelenting disease course despite conventional therapy.en_US
dc.identifier.citationYucel, E., Karakus, I. S., Krolo, A., Kiykim, A., Heredia, R. J., Tamay, Z., ... & Boztug, K. (2020). Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis. Journal of Clinical Immunology, 1-7.en_US
dc.identifier.doi10.1007/s10875-020-00878-4en_US
dc.identifier.issn0271-9142en_US
dc.identifier.pmid33025377en_US
dc.identifier.scopus2-s2.0-85092186178en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-020-00878-4
dc.identifier.urihttps://hdl.handle.net/20.500.12713/1139
dc.identifier.wosWOS:000575728800002en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorErol Çipe, Funda
dc.language.isoenen_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCEBPEen_US
dc.subjectHematopoietic Stem Cell Transplantationen_US
dc.subjectNeutropeniaen_US
dc.subjectSMARCD2en_US
dc.subjectSpecific Granule Deficiencyen_US
dc.subjectSWI/SNF Complexen_US
dc.titleNovel frameshift autosomal recessive loss-of-function mutation in SMARCD2 encoding a chromatin remodeling factor mediates granulopoiesisen_US
dc.typeArticleen_US

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