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Quoted phrase not found in phrase index: "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"
Page 1
Gene therapy for severe combined immunodeficiencies and beyond.
Fischer A, Hacein-Bey-Abina S. Fischer A, et al. J Exp Med. 2020 Jan 6;217(2):e20190607. doi: 10.1084/jem.20190607. J Exp Med. 2020. PMID: 31826240 Free PMC article. Review.
Ex vivo retrovirally mediated gene therapy has been shown within the last 20 yr to correct the T cell immunodeficiency caused by gammac-deficiency (SCID X1) and adenosine deaminase (ADA) deficiency. The rationale was brought up by the observation of the revertant of SCIDX1 …
Ex vivo retrovirally mediated gene therapy has been shown within the last 20 yr to correct the T cell immunodeficiency caused by gammac-defi …
Severe combined immunodeficiency: improved survival leading to detection of underlying liver disease.
Vittal A, Abdul Majeed N, Garabedian E, Marko J, Kleiner DE, Sokolic R, Candotti F, Malech H, Heller T, Koh C. Vittal A, et al. BMC Gastroenterol. 2023 May 19;23(1):166. doi: 10.1186/s12876-023-02782-8. BMC Gastroenterol. 2023. PMID: 37208598 Free PMC article.
All patients had normal Fibrosis-4 Index and Non-alcoholic fatty liver disease fibrosis biomarker scores indicating absence of advanced fibrosis in our cohort. Of 5 patients who had liver biopsies, steatohepatitis was noted in 3 patients (NAS score of 3,3,4). ...
All patients had normal Fibrosis-4 Index and Non-alcoholic fatty liver disease fibrosis biomarker scores indicating absence of advanc …
Gene therapy for adenosine deaminase severe combined immune deficiency-An unexpected journey of four decades.
Kohn DB. Kohn DB. Immunol Rev. 2024 Mar;322(1):148-156. doi: 10.1111/imr.13293. Epub 2023 Nov 30. Immunol Rev. 2024. PMID: 38033164 Review.
Iterative improvements in vector design, HSC processing methods, and clinical HSC transplant procedures have led nearly all ADA SCID gene therapy patients to achieve consistently beneficial immune restoration with stable engraftment of ADA gene-corrected HSC over the duration of …
Iterative improvements in vector design, HSC processing methods, and clinical HSC transplant procedures have led nearly all ADA SCID gene th …
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.
Grunebaum E, Cohen A, Roifman CM. Grunebaum E, et al. Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006. Curr Opin Allergy Clin Immunol. 2013. PMID: 24113229 Review.
Animal studies suggest that defects in surfactant metabolism by alveolar macrophages cause the pulmonary alveolar proteinosis commonly seen in ADA-deficient infants, while toxicity of purine metabolites to cerebellar Purkinje cells may lead to the ataxia frequently observed …
Animal studies suggest that defects in surfactant metabolism by alveolar macrophages cause the pulmonary alveolar proteinosis commonly seen …
Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency-Improved Outcomes in the Modern Era.
Ghimenton E, Flinn A, Lum SH, Leahy TR, Nademi Z, Owens S, Williams E, Flood T, Hambleton S, Slatter M, Gennery AR. Ghimenton E, et al. J Clin Immunol. 2022 May;42(4):819-826. doi: 10.1007/s10875-022-01238-0. Epub 2022 Mar 15. J Clin Immunol. 2022. PMID: 35288820 Free PMC article.
Ten (30.3%) developed acute GvDH (3 grade II, 2 grade III); no chronic GvHD was observed. In the modern era, conditioned HSCT with MUD has a favorable outcome for ADA-deficient patients....
Ten (30.3%) developed acute GvDH (3 grade II, 2 grade III); no chronic GvHD was observed. In the modern era, conditioned HSCT with MU …
Busulfan Pharmacokinetics in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Gene Therapy.
Bradford KL, Liu S, Krajinovic M, Ansari M, Garabedian E, Tse J, Wang X, Shaw KL, Gaspar HB, Candotti F, Kohn DB. Bradford KL, et al. Biol Blood Marrow Transplant. 2020 Oct;26(10):1819-1827. doi: 10.1016/j.bbmt.2020.07.004. Epub 2020 Jul 9. Biol Blood Marrow Transplant. 2020. PMID: 32653625 Free PMC article.
However, weight and age alone were insufficient to accurately predict the dose that would consistently achieve a target AUC. Furthermore, various clinical, laboratory, and genetic factors (eg, genotypes for glutathione-S-transferase isozymes known to participate in BU meta …
However, weight and age alone were insufficient to accurately predict the dose that would consistently achieve a target AUC. Furtherm …
Gene therapy for adenosine deaminase deficiency.
Aiuti A, Ficara F, Cattaneo F, Bordignon C, Roncarolo MG. Aiuti A, et al. Curr Opin Allergy Clin Immunol. 2003 Dec;3(6):461-6. doi: 10.1097/00130832-200312000-00007. Curr Opin Allergy Clin Immunol. 2003. PMID: 14612670 Review.
PURPOSE OF REVIEW: Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency has moved from the early trials of safety and feasibility to recent studies demonstrating efficacy and clinical benef …
PURPOSE OF REVIEW: Gene therapy for severe combined immunodeficiency due to adenosine deaminase …
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Migliavacca M, Barzaghi F, Fossati C, Rancoita PMV, Gabaldo M, Dionisio F, Giannelli S, Salerio FA, Ferrua F, Tucci F, Calbi V, Gallo V, Recupero S, Consiglieri G, Pajno R, Sambuco M, Priolo A, Ferri C, Garella V, Monti I, Silvani P, Darin S, Casiraghi M, Corti A, Zancan S, Levi M, Cesana D, Carlucci F, Pituch-Noworolska A, AbdElaziz D, Baumann U, Finocchi A, Cancrini C, Ladogana S, Meinhardt A, Meyts I, Montin D, Notarangelo LD, Porta F, Pasquet M, Speckmann C, Stepensky P, Tommasini A, Rabusin M, Karakas Z, Galicchio M, Leonardi L, Duse M, Guner SN, Di Serio C, Ciceri F, Bernardo ME, Aiuti A, Cicalese MP. Migliavacca M, et al. Nat Med. 2024 Feb;30(2):488-497. doi: 10.1038/s41591-023-02789-4. Epub 2024 Feb 14. Nat Med. 2024. PMID: 38355973
Long-term persistence of multilineage gene-corrected cells, metabolic detoxification, immune reconstitution and decreased infection rates were observed. Estimated mixed-effects models showed that higher dose of CD34(+) cells infused and younger age at GT affected positivel …
Long-term persistence of multilineage gene-corrected cells, metabolic detoxification, immune reconstitution and decreased infection rates we …
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ. Cagdas D, et al. J Clin Immunol. 2018 May;38(4):484-493. doi: 10.1007/s10875-018-0496-9. Epub 2018 May 9. J Clin Immunol. 2018. PMID: 29744787
This may alleviate the speech delay and cognitive abnormalities which may be observed in the follow-up....
This may alleviate the speech delay and cognitive abnormalities which may be observed in the follow-up....
Gene therapy of primary T cell immunodeficiencies.
Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M. Fischer A, et al. Gene. 2013 Aug 10;525(2):170-3. doi: 10.1016/j.gene.2013.03.092. Epub 2013 Apr 10. Gene. 2013. PMID: 23583799 Free article. Review.
Occurrence of gene toxicity generated by integration of first generation retroviral vectors, as observed in the SCID-X1 trials has led to replace these vectors by self inactivated (SIN) retro(or lenti) viruses that may provide equivalent efficacy with a better safety profi …
Occurrence of gene toxicity generated by integration of first generation retroviral vectors, as observed in the SCID-X1 trials has le …
43 results