Clinical and Immunological Correction of DOCK8 Deficiency by Allogeneic Hematopoietic Stem Cell Transplantation Following a Reduced Toxicity Conditioning Regimen
| العنوان: | Clinical and Immunological Correction of DOCK8 Deficiency by Allogeneic Hematopoietic Stem Cell Transplantation Following a Reduced Toxicity Conditioning Regimen |
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| المؤلفون: | Michael H. Albert, Georg Mann, Susanne Matthes-Martin, Alexandra Rümmele-Waibel, Ellen D. Renner, René Geyeregger, Bernd Ausserer, Christina Peters, Julie Sawalle-Belohradsky, Bernd H. Belohradsky, Anita Lawitschka, Cäcilia Karitnig-Weiß, Karoly Lakatos, Heidrun Boztug, Ernst Horcher |
| المصدر: | Pediatric Hematology and Oncology. 29:585-594 |
| بيانات النشر: | Informa UK Limited, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Transplantation Conditioning, medicine.medical_treatment, DNA Mutational Analysis, Hematopoietic stem cell transplantation, medicine, Guanine Nucleotide Exchange Factors, Humans, Transplantation, Homologous, Eosinophilia, Pneumonitis, business.industry, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, Hematology, medicine.disease, Pedigree, Transplantation, Regimen, surgical procedures, operative, Oncology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Immunology, Eczematous dermatitis, Female, medicine.symptom, business, DOCK8 Deficiency, Aspergilloma |
| الوصف: | Dedicator of cytokinesis 8 protein (DOCK8) deficiency is a combined immunodeficiency disorder characterized by an expanding clinical picture with typical features of recurrent respiratory or gastrointestinal tract infections, atopic eczema, food allergies, chronic viral infections of the skin, and blood eosinophilia often accompanied by elevated serum IgE levels. The only definitive treatment option is allogeneic hematopoietic stem cell transplantation (HSCT). We report a patient with early severe manifestation of DOCK8 deficiency, who underwent unrelated allogeneic HSCT at the age of 3 years following a reduced toxicity conditioning regimen. The transplant course was complicated by pulmonary aspergilloma pretransplantation, adenovirus (ADV) reactivation, and cytomegalovirus (CMV) pneumonitis 4 weeks after transplantation. With antifungal and antiviral treatment the patient recovered. Seven months after transplantation the patient is in excellent clinical condition. Eczematous rash, chronic viral skin infections, and food allergies have subsided, associated with normalization of IgE levels and absolute numbers of eosinophils. Chimerism analysis shows stable full donor chimerism. DOCK8 deficiency can be successfully cured by allogeneic HSCT. This treatment option should be considered early after diagnosis, as opportunistic infections and malignancies that occur more frequently during the natural course of the disease are associated with higher morbidity and mortality. |
| تدمد: | 1521-0669 0888-0018 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6fae439964f186d7f93b4b8c1a66c2Test https://doi.org/10.3109/08880018.2012.714844Test |
| رقم الانضمام: | edsair.doi.dedup.....db6fae439964f186d7f93b4b8c1a66c2 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15210669 08880018 |
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