Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by eczematous dermatitis, elevated serum IgE, and recurrent infections, comprising a seemingly hyper-IgE syndrome (HIES). DOCK8 deficiency is only curable with allogeneic hematopoietic cell transplantation (HCT), but the outcome of HCT from alternative donors is not fully understood. Here, we describe the cases of two Japanese patients with DOCK8 deficiency who were successfully treated by allogeneic HCT from alternative donors. Patient 1 underwent cord blood transplantation at the age of 16 years, and Patient 2 underwent haploidentical peripheral blood stem cell transplantation with post-transplant cyclophosphamide at the age of 22 years. Each patient received a fludarabine-based conditioning regimen. Their clinical manifestations, including refractory molluscum contagiosum, promptly improved post-HCT. They achieved successful engraftment and immune reconstitution without serious complications. Alternative donor sources such as cord blood and haploidentical donors can be options for allogeneic HCT for DOCK8 deficiency.
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http://dx.doi.org/10.1007/s12185-023-03613-y | DOI Listing |
Anaesth Crit Care Pain Med
December 2024
CIRI-Centre International de Recherche en Infectiologie (Team PHE3ID), Univ Lyon, Université Claude Bernard Lyon 1, Inserm, U1111, CNRS, UMR5308, ENS Lyon, 46 Allée d'Italie, Lyon 69007, France; Département d'Anesthésie Réanimation, Centre Hospitalier Lyon Sud Hospices Civils de Lyon, Pierre-Bénite, France.
Background: Nurse retention is a major concern in healthcare settings, especially among intensive care units (ICU), in which nurses are highly specialized. The objective was to describe the nurse courses after their entrance into the ICU, their motivation for leaving the ICU, and to identify the independent factors that influenced the nurse resignation from their units.
Methods: In 3 different centers, every ICU nurse working between 2013 and 2023 was telephonically contacted and was asked to describe their career and, when appropriate, the reasons that influenced their resignation from their units; they rated on a Likert scale of 14 factors that influenced their decision.
BMC Prim Care
December 2024
Society of General Practice, J. E. Purkyně Czech Medical Association, Sokolská 490/31, Prague, 12000, Czech Republic.
Background: Given the critical role of general practitioners (GPs), their insufficient medical density and the adverse effects of burnout on both practitioners and the quality of care provided, the prevalence estimates of GP burnout reported in the literature are highly concerning. This nationwide study builds on a 2023 survey that revealed a significant burden of burnout among Czech GPs. The primary objectives were to analyse the prevalence and determinants of burnout and to examine potential trends over time.
View Article and Find Full Text PDFImmunol Res
December 2024
Paediatric Immunology and Rheumatology Unit, Aster CMI Hospital, Bengaluru, India.
DOCK8 deficiency is the most common cause of autosomal recessive hyper-IgE syndrome (AR-HIES). The clinical spectrum is wide resulting in combined immunodeficiency, atopy, autoimmunity, and malignancies. To study the clinical and molecular profile of 20 patients with DOCK8 deficiency.
View Article and Find Full Text PDFPsychiatriki
December 2024
Department of Anaesthesiology, Faculty of Medicine, University of Thessaly, Larissa University Hospital, Larissa, Greece.
Cell Death Dis
December 2024
Department of Pathogen Biology, School of Basic Medicine, Tongji Medical College and State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China.
DOCK8 deficiency has been shown to affect the migration, function, and survival of immune cells in innate and adaptive immune responses. The immunological mechanisms underlying autosomal recessive (AR) hyper-IgE syndrome (AR-HIES) caused by DOCK8 mutations remain unclear, leading to a lack of specific therapeutic options. In this study, we used CRISPR/Cas9 technology to develop a mouse model with a specific DOCK8 point mutation in exon 45 (c.
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