Correction to: Allogeneic Hematopoietic Cell Transplantation in Patients with Primary Immunodeficiencies in Korea: Eleven-Year Experience in a Single Center

Yi, Eun Sang; Choi, Young Bae; Lee, Na Hee; Lee, Ji Won; Sung, Ki Woong; Koo, Hong Hoe; Kang, Eun-Sook; Kim, Yae-Jean; Yoo, Keon Hee

doi:10.1007/s10875-018-0561-4

Cited by 5 publications

(1 citation statement)

References 35 publications

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“…Patiroglu et al, in Turkey, 10 reported the outcomes of 20 transplanted PID patients (of which 6 were also SCID), with a median age at transplant of 21 months, 11 related HLA‐matched, 6 haploidentical; they found a 65% survival rate, and a prevalence of 30% for GVHD. In Seoul, Yi et al described in 2018 their experience of 26 patients in 11 years, 11 most of which had WAS, CGD or SCID; they found a 73.1% survival rate, and 85% of patients with complete chimerism after 1 year. In India, Uppuluri et al 12 transplanted 16 children with PID and used post‐transplant cyclophosphamide on Days 3‐4; they found a 50% prevalence for GVHD.…”

Section: Discussionmentioning

confidence: 99%

Stem‐cell transplantation for children with primary immune deficiencies: A retrospective study of 19 patients from one centre in Mexico

et al. 2022

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Introduction For many patients with primary immune deficiency (PID), stem‐cell transplantation (SCT) may be life‐saving. Objective To review our experience of 11 years transplanting children with PID in Mexico. Methods Chart review of patients who underwent SCT from 2008 to 2018, to describe their diagnoses, time to transplant, conditioning regime, survival rate and outcomes. All patients received post‐transplant cyclophosphamide as graft‐versus‐host‐disease (GVHD) prophylaxis. Results 19 patients with combined, phagocytic or syndromic PID from 5 states. Twelve of them were male (58%) and 14 survive (79%). Mean age at HSCT was 41.9 months; mean time from diagnosis was 31.2 months. Seven grafts were umbilical cord and 12 haploidentical. The conditioning regime was myeloablative, with five primary graft failures. Two patients had partial and 10 full chimerism. Five patients died within 2 months after transplant. Immune reconstitution was complete in 11 of 19 patients. We found a prevalence of 21% GVHD. Discussion We describe 19 patients from Mexico with 8 PID diagnoses who underwent allogenic HSCT over a period of 11 years. Survival rate and other outcomes compare well with industrialized countries. We recommend the use of post‐transplant cyclophosphamide to prevent GVHD in scenarios of resource scarcity and a lack of HLA‐identical donors.

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Section: Discussionmentioning

confidence: 99%

Stem‐cell transplantation for children with primary immune deficiencies: A retrospective study of 19 patients from one centre in Mexico

et al. 2022

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Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders

et al. 2022

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To evaluate the relationship between knowledge of genetic diagnosis before HSCT and outcome, we reviewed all HSCTs for primary immune deficiencies (PID) performed at UCSF from 2007 through 2018. SCID, a distinct entity identified since 2010 in California by newborn screening and treated early, was considered separately. The underlying genetic condition was known at the time of HSCT in 85% of cases. Graft failure was less frequent in patients with a genetic diagnosis (19% with a genetic diagnosis versus 47% without, p = 0.020). Furthermore, event-free survival and overall survival (OS) at 5 years were better for those with a genetic diagnosis (78% with versus 44% without, p = 0.006; and 93% versus 60% without, p = 0.0002, respectively). OS at 5 years was superior for known-genotype patients with both SCID (p = 0.010) and non-SCID PID (p = 0.010). There was no difference in OS between HSCT done in 2007–2010 compared to more recently (p = 0.19). These data suggest that outcomes of HSCT for PID with known genotype may reflect specific experience and literature, or that a substantial proportion of patients with PID of undetermined genotype may have had underlying conditions for which HSCT may carry greater risk. The higher rate of graft failure in PID with unknown genotype may be in part explained by insufficient conditioning, which in turn could be dictated by compromised organ function in patients undergoing HSCT late in the course. Widespread availability of PID gene sequencing as standard care can provide genetic diagnoses for most patients with PID prior to HSCT, permitting optimization of transplant approach.

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Genetic classification and confirmation of inherited platelet disorders: current status in Korea

Shim

2020

Clin Exp Pediatr

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Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

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Correction to: Allogeneic Hematopoietic Cell Transplantation in Patients with Primary Immunodeficiencies in Korea: Eleven-Year Experience in a Single Center

Cited by 5 publications

References 35 publications

Stem‐cell transplantation for children with primary immune deficiencies: A retrospective study of 19 patients from one centre in Mexico

Stem‐cell transplantation for children with primary immune deficiencies: A retrospective study of 19 patients from one centre in Mexico

Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders

Genetic classification and confirmation of inherited platelet disorders: current status in Korea

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