A Case of Female X-linked Chronic Granulomatous Disease Caused by X Chromosome Inactivation Treated with Hematopoietic Stem Cell Transplantation and Literature Review.

Objective: X-linked chronic granulomatous disease (X-CGD) is a rare primary immunodeficiency disease characterized by phagocyte dysfunction. It is caused by genetic mutations in the CYBB gene, predominantly affecting males. However, a small number of female carriers can also present with the disease due to biased X chromosome inactivation.

Effect of allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease in children: A multicentre, retrospective cohort study in China.

Chronic granulomatous disease (CGD) in children is a rare primary immunodeficiency disorder that can lead to life-threatening infections and inflammatory complications. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is increasingly being used to treat severe CGD in children. We conducted a multicenter retrospective analysis of children with CGD who were treated with allo-HSCT at four pediatric hematopoietic stem cell transplant centers in China from September 2005 to December 2019.

The novel HLA-DPB1*1497:01 allele, identified by Sanger dideoxy nucleotide sequencing in a Chinese individual.

HLA-DPB1*1497:01 differs from HLA-DPB1*05:01:01:01 by one nucleotide in exon 4.

Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation.

Unstable hemoglobinopathies are a rare, heterogeneous group of diseases that disrupt the stability of hemoglobin (Hb), leading to chronic hemolysis and anemia. Patients with severe phenotypes often require regular blood transfusions and iron chelation therapy. Although rare, studies have reported that hematopoietic stem cell transplantation (HSCT) seems to be an available curative approach in transfusion-dependent patients with unstable hemoglobinopathies.

The research on the treatment of primary immunodeficiency diseases by hematopoietic stem cell transplantation: A bibliometric analysis from 2013 to 2022.

Hematopoietic stem cell transplantation (HSCT) is curative in patients with primary immunodeficiency syndrome. The safety and efficacy of HSCT as a therapeutic option for primary immunodeficiency diseases (PID) have been studied by many research groups. The purpose of our study was to perform a bibliometric analysis of research on HSCT for the treatment of PID, to assess research trends in this field, and note future research priorities.

Optimizing conditioning regimen with low-dose irradiation or busulfan enables the outcome of transplantation from a 6-7/8 HLA-matched donor comparable to that from an 8/8 HLA-matched unrelated donor in severe aplastic anemia patients under 40 years.

With the dramatic improvements in outcomes following alternative donor hematopoietic stem cell transplantation (HSCT), interest in the use of alternative donors in severe aplastic anemia (SAA) is increasing. We conducted a multicenter prospective study to explore the efficiency and safety of upfront HSCT from a 6-8/8 HLA-matched unrelated donor (MUD) or 6-7/8 HLA-matched related donor (MRD) in acquired SAA patients under 40 years. Between August 2014 and July 2017, 115 patients were enrolled, including 48 (41.

Improved outcomes using unmanipulated haploidentical hematopoietic stem cells combined with third-party umbilical cord blood transplantation for non-malignant diseases in children: The experience of a single center.

Background: Unmanipulated haploid HSCT for SAA has resulted in improved outcomes over recent years. However, studies related to unmanipulated haploid HSCs combined with tp-UCB transplantation for other types of NMD are rare. Accordingly, we present the outcomes of 109 pediatric patients with life-threatening NMD undergoing unmanipulated haploid HSCs combined with tp-UCB transplantation.

Prognosis of haploidentical hematopoietic stem cell transplantation in non-infant children with t(v;11q23)/MLL-rearranged B-cell acute lymphoblastic leukemia.

B-cell acute lymphoblastic leukemia (B-ALL) with MLL-rearrangements (MLL-r) is rare in pediatric patients (aged >1 year), and optimal treatment strategies remain unclear. This study aimed to retrospectively evaluate the clinical characteristics, outcomes, and effects of allogeneic hematopoietic stem cell transplantation (allo-HSCT) of 37 non-infant children with t(v;11q23)/MLL-r B-ALL. Their 4-year overall survival (OS), event-free survival (EFS), and cumulative incidence of relapse (CIR) were 69.

[A clinical study of haploid hematopoietic stem cells combined with third-party umbilical cord blood transplantation in the treatment of chronic granulomatous disease].

Objective: To investigate the clinical efficacy of haploid hematopoietic stem cells (haplo-HSC) combined with third-party umbilical cord blood (tpCB) transplantation in the treatment of X-linked chronic granulomatous disease (X-CGD).

Methods: The clinical data of 26 boys with X-CGD were retrospectively analyzed who were admitted to the Sixth Medical Center of PLA General Hospital between April 2014 and March 2018. All the patients were treated with haplo-HSC combined with tpCB transplantation.

Clinical outcomes of unrelated cord blood transplantation in children with malignant and non-malignant diseases: Multicenter experience in China.

This multicenter retrospective study included 184 children with malignant and non-malignant diseases who underwent UCBT between January 1998 and August 2012. The malignant disease group included 101 children with ALL, AML, CML, JMML, and MDS, and the non-malignant disease group included 83 children with PID, β-thalassemia, IMD BMF, and HLH. The median duration to neutrophil and platelet engraftment was 16 and 35 days in the malignant disease group vs 15 and 38 days in the non-malignant disease group.

[Treatment of Gaucher disease with allogeneic hematopoietic stem cell transplantation: report of three cases and review of literatures].

Objective: To explore the efficacy of unrelated umbilical cord blood transplantation (UCBT) in the treatment of Gaucher disease.

Method: The clinical characteristics of three children with Gaucher disease underwent UCBT in our hospital between April 2013 and September 2014 were retrospectively analyzed. Literature on allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the treatment of Gaucher disease was searched at Wanfang and Pubmed databases between 1983 and 2015 and was reviewed and summaried.

Similar outcomes of allogeneic hematopoietic cell transplantation from unrelated donor and umbilical cord blood vs. sibling donor for pediatric acute myeloid leukemia: Multicenter experience in China.

In a multicenter study, we have conducted a retrospective study on 73 pediatric AML patients who were primary refractory or in greater than CR1 and investigated MSD (or MMSD) (n = 20), URD (n = 23), and UCB (n = 30) HCT between January 1998 and October 2009. The median day to neutrophil engraftment was similar in all groups. The median day to platelet engraftment was longer in the UCB group.

[Clinical effect of umbilical cord blood transplantation in 37 pediatric patients with hematologic malignancies: a single-center experience].

Objective: To evaluate the clinical effect of umbilical cord blood transplantation (UCBT) in children with hematologic malignancies.

Methods: A retrospective analysis was performed on the clinical data of 37 pediatric patients with hematologic malignancies that consisted of 14 cases of acute lymphocyte leukemia, 9 cases of acute myeloid leukemia, 5 cases of juvenile myelomonocytic leukemia, 3 cases of chronic myeloid leukemia, 2 cases of acute mixed leukemia, 3 cases of myelodysplastic syndrome, and 1 case of lymphosarcomatous leukemia. Thirty-seven children with hematologic malignancies received UCBT from unrelated donors (34 cases) and related donors (3 cases).

Long-term follow-up of autologous stem cell transplantation for severe paediatric systemic lupus erythematosus.

This study attempts to evaluate the outcome of autologous peripheral blood hematopoietic stem cell transplantation (auto-PBHSCT) in patients with severe paediatric systemic lupus erythematosus (SLE). Five patients (n = 2 females, n = 3 males) with severe or refractory paediatric SLE received autologous peripheral blood CD34+ cell transplants between July 2005 and February 2009. The patients ranged in age from 6 to 14 years, and the course of disease extended over a period from 5 to 90 months.

[Morphologic diagnosis and onset characteristics of acute leukemia: a retrospective analysis of 233 cases in 10 years].

The objective of this study was to evaluate the value of morphologic diagnosis for acute leukemia (AL), to explore the relation of morphologic diagnosis with immunology, cytogenetics and molecular biology diagnosis of AL and to analyze the onset characteristics of AL in 10 years. The samples of bone marrow and peripheral blood from 233 newly diagnosed cases of AL were collected during 2001-2011 years; the morphologic examination and immunologic, cytogenetic and molecular biologic examination (ICM) were carried out, the consistency of morphologic diagnosis with ICM diagnosis was compared, the onset characteristics of AL was analyzed. The results showed that: (1) the consistent rate of immunology, cytogenetics, molecular biology diagnosis with morphologic diagnosis was 84.

Total body irradiation plus cyclophosphamide versus busulphan with cyclophosphamide as conditioning regimen for patients with leukemia undergoing allogeneic stem cell transplantation: a meta-analysis.

The aim of the study was to compare the therapeutic efficacy of total body irradiation (TBI)/cyclophosphamide (CY) versus BU/CY as conditioning regimen for leukemia. We electronically searched the Cochrane Central Register of Controlled Trials, Medline, Embase, CIBMTR and critically appraised all relevant articles (1990.01-2009.

Meta-analysis of HLA matching and the outcome of unrelated umbilical cord blood transplantation (CBT).

Objective: The aim of this meta-analysis is to compare the HLA disparities and the outcome of UCBT, i.e. the disease-free survival (DFS), engraftment, graft-versus-host disease, (GVHD), and transplantation related mortality (TRM).

Unrelated umbilical cord blood transplantation and unrelated bone marrow transplantation in children with hematological disease: a meta-analysis.

UCB has been used as an alternative source of HSC. Both unrelated donor BM and UCB are available as potential options for transplantation. However, there have been limited comparisons of the outcomes of unrelated donor UCBT vs.

[Unrelated umbilical cord blood transplantation as a treatment for children with malignant leukemia].

Objective: Unrelated umbilical cord blood has the clear benefits of rapid availability and a reduced stringency of requirement for HLA match. The aim of this study was to investigate the efficacy of unrelated umbilical cord blood transplantation (UCBT) in the treatment of malignant leukemia in children.

Methods: Six children with malignant leukemia, including three cases of acute lymphocyte leukemia [two high-risk patients and one standard-risk patient in complete remission (CR)], two juvenile myelomonocytic leukemia (one in CR and one in the accelerating stage), and one acute myeloblastic leukaemia (in CR), received a UCBT.

[Treatment of refractory rheumatism among preschool children with autologous peripheral blood hematopoietic stem cell transplantation].

Objective: To investigate the feasibility and safety of autologous peripheral blood hematopoietic stem cell transplantation (auto-PBHSCT) and its therapeutic effect on refractory rheumatism among preschool children.

Methods: Three boys with juvenile rheumatoid arthritis (JRA), juvenile systemic lupus erythematosus (JSLE) and juvenile dermatomyositis (JDM) respectively, 3 to 6 years old with the mean age of 5 years with 3.5 to 22 months course of disease with 14 months on average, received auto-PBHSCT.

[Comparison of different cryopreservation systems for peripheral blood stem cells].

Aim: To explore proper cryopreservative systems for hematopoietic stem cells.

Methods: Peripheral blood mononuclear cells from 20 persons were mixed with different cryopreservative agent, dimethyl suflfoxide (DMSO) or combination of DMSO and hydroxyethyl starch (HES), then cooled in -80 degrees C low temperature refrigerator (Refr) or autocontrolled programmed cryogenic system (PCS), preserved in Refr or in liquid nitrogen. GM-CFU, LTC-IC, CD34+ cells and typeran blue resistance (TBR) were assayed after different period of cryopreservation.