دورية أكاديمية
Hematopoietic Stem Cell Transplantation for Patients with Autosomal Recessive Complete INF-λ Receptor 2 Deficiency: Experience in Oman.
| العنوان: | Hematopoietic Stem Cell Transplantation for Patients with Autosomal Recessive Complete INF-λ Receptor 2 Deficiency: Experience in Oman. |
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| المؤلفون: | Nazir HF; Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman; Department of Pediatrics, Alexandria Faculty of Medicine, Alexandria, Egypt., Rawas AA; Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., Tamemi SA; Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., Zadjali SA; Department of Hematology, Sultan Qaboos University Hospital, Muscat, Oman., Hosni SA; Department of Hematology, Sultan Qaboos University Hospital, Muscat, Oman., Tauro M; Department of Hematology, Sultan Qaboos University Hospital, Muscat, Oman., Qassabi JA; Department of Hematology, Sultan Qaboos University Hospital, Muscat, Oman., Elnour I; Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., Handgretinger R; Department of Hematology/Oncology, University Children's Hospital, Tuebingen, Germany., Dennison D; Department of Hematology, Sultan Qaboos University Hospital, Muscat, Oman; Hematology Section, Apollo Hospital Muscat, Oman. Electronic address: ddennison2008@gmail.com. |
| المصدر: | Transplantation and cellular therapy [Transplant Cell Ther] 2021 Oct; Vol. 27 (10), pp. 881.e1-881.e5. Date of Electronic Publication: 2021 Jul 20. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101774629 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6367 (Electronic) Linking ISSN: 26666367 NLM ISO Abbreviation: Transplant Cell Ther Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [New York] : Elsevier Inc., [2021]- |
| مواضيع طبية MeSH: | Graft vs Host Disease*/genetics , Hematopoietic Stem Cell Transplantation*, Bacterial Outer Membrane Proteins ; Humans ; Oman ; Porins ; Receptors, Virus ; Transplantation Conditioning |
| مستخلص: | Autosomal recessive complete INF-γ receptor-2 (IFN-γR2) deficiency is a rare, potentially fatal primary immune deficiency that predisposes to disseminated mycobacterial disease. Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment. Few patients have been reported so far. Here we report the outcomes of HSCT in 7 patients with IFNγ-R2 deficiency from 3 Omani families who underwent HSCT at Sultan Qaboos University Hospital in Oman. All patients were homozygous for the same mutation (c.-175_+102del) of INFGR2. Four patients underwent HLA-matched related donor (MRD) HSCT (3 siblings and 1 parent), and the other 3 underwent T cell-depleted (TCD) haploidentical HSCT from a family donor. The stem cell source was peripheral blood stem cells in 5 patients and bone marrow in 2 patients. Five patients received myeloablative conditioning, and 2 had reduced-intensity conditioning. The overall survival rate was 85.7%, and the event-free survival was 71.4%. One of the 7 patients died on day +31 with gram-negative sepsis, and the other 6 patients were cured from their original disease (median follow-up of 78.5 months). One patient had primary graft failure following a TCD-haploidentical transplantation and underwent successful retransplantation from another haploidentical relative. Three patients received a donor lymphocyte infusion for mixed chimerism. Our findings indicate that HSCT is curative for complete IFN-γR2 deficiency. In this cohort from Oman, 85.7% of the patients were cured with either an MRD or a TCD haploidentical transplantation. Genetic analysis at birth in children of high-risk couples permits early diagnosis, prevents the morbidity of BCG vaccination, and can enable safer and more successful transplantation outcomes. (Copyright © 2021 The American Society for Transplantation and Cellular Therapy. Published by Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Hematopoietic stem cell transplantation; IFN-γ receptor 2 deficiency; Oman; Outcome |
| المشرفين على المادة: | 0 (Bacterial Outer Membrane Proteins) 0 (Porins) 0 (Receptors, Virus) 0 (maltoporins) |
| تواريخ الأحداث: | Date Created: 20210722 Date Completed: 20211020 Latest Revision: 20220531 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/j.jtct.2021.07.013 |
| PMID: | 34293519 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 2666-6367 |
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| DOI: | 10.1016/j.jtct.2021.07.013 |