Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European Society for Blood and Marrow Transplantation Inborn Errors Working Party study.

Background: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) insufficiency causes a primary immune regulatory disorder characterized by lymphoproliferation, dysgammaglobulinemia, and multiorgan autoimmunity including cytopenias and colitis.

Objective: We examined the outcome of hematopoietic stem cell transplantation (HSCT) for CTLA-4 insufficiency and study the impact of pre-HSCT CTLA-4 fusion protein (CTLA-4-Ig) therapy and pre-HSCT immune dysregulation on survival and immunologic outcome.

Methods: This was a retrospective study of HSCT for CTLA-4 insufficiency and 2q33.

Allogeneic hematopoietic stem cell transplantation in infants is associated with significant morbidity and mortality.

Background: Infants are subjected to hematopoietic stem cell transplantation (HSCT) due to malignant and non-malignant diseases. However, specific data concerning the outcome and transplantation-related complications in infants, as a separate age group, are limited. Our aim was to evaluate the impact of infancy on the outcome, toxicity, and complications after HSCT.

HSCT remains the only cure for patients with transfusion-dependent thalassemia until gene therapy strategies are proven to be safe.

Patients with β-thalassemia suffer from severe anemia, iron overload and multiple complications, that affect their quality of life and well-being. Allogeneic hematopoietic stem cell transplantation (HSCT) from an HLA-matched sibling donor, performed in childhood, has been the gold standard for thalassemic patients for decades. Unfortunately, siblings are available only for the minority of patients.

Is Carbapenem-resistant Klebsiella pneumoniae Infection in Pediatric Bone Marrow Transplantation Recipients Inevitably Fatal?

Carbapenem resistance, most notably in Klebsiella pneumonia (KPC), results in infections associated with significant morbidity and mortality. Here we report 2 cases of adolescent patients with KPC infection after high-risk bone marrow transplantation, who eventually succumbed from other causes and review the epidemiology and treatment options for KPC infections in this vulnerable population.

Lung hyperinflation quantitated by chest CT in children with bronchiolitis obliterans syndrome following allogeneic hematopoietic cell transplantation.

Objectives: Bronchiolitis obliterans syndrome (BOS) diagnosis in children following allogeneic hematopoietic stem cell transplantation (post-HSCT) is based on detection of airway obstruction on spirometry and air-trapping, small airway thickening or bronchiectasis on chest CT. We assessed the relationship between spirometry indices and low-attenuation lung volume at total lung capacity (TLC) on CT.

Methods: Data of children post-HSCT with and without BOS were analyzed.

Autosomal dominant hyper-IgE syndrome: When hematopoietic stem cell transplantation should be considered?

AD-HIES or Job's syndrome is a primary immunodeficiency, caused by dominant negative mutations in signal transducer and activator of transcription (STAT) 3. The syndrome is characterized by infectious, immunologic, and non-immunologic manifestations and is associated with significant morbidity, mortality, and development of lymphomas. What has not yet been elucidated is the role of HSCT in the disease treatment spectrum.

Toxoplasma gondii: How fatal is it in pediatric allogeneic bone marrow transplantation setting?

Toxoplasmosis is a disease of the immunocompetent population. However, cases of toxoplasma infection associated with immunosuppression have been reported, especially the first months after transplantation. Limited data are available about toxoplasma infection, occurring even many months post-transplant in pediatric patients with nonmalignant and malignant diseases.

Successful long-term hematological and immunological reconstitution by autologous cord blood transplantation combined with post-transplant immunosuppression in two children with severe aplastic anemia.

aUCBT is a valuable curative option in pediatric patients with refractory idiopathic SAA and no available matched sibling or unrelated donors. Experience in the use of autologous cord blood units in patients with SAA is limited and private for-profit cord blood-banking programs are controversial. We report the successful treatment of two patients with SAA, aged 15 and 24 months, with autologous cord blood combined with immunosuppression.

Quantiferon-Cytomegalovirus assay: A potentially useful tool in the evaluation of CMV-specific CD8+ T-cell reconstitution in pediatric hematopoietic stem cell transplant patients.

Pediatric HSCT recipients are at high risk for CMV reactivation due to their immature immune system and therapy following transplantation. Reconstitution of CMV-specific T-cell immunity is associated with control and protection against CMV. The clinical utility of monitoring CMV-specific CMI to predict CMV viremia in pediatric HSCT patients using the Quantiferon-CMV (QIAGEN ) test was investigated prospectively.