Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency

Autor: Annaliesse Blincoe, Alessandro Aiuti, Luigi D. Notarangelo, Michael S. Hershfield, H. Bobby Gaspar, Jennifer M. Puck, Donald B. Kohn, Eyal Grunebaum
Přispěvatelé: Kohn, Donald B, Hershfield, Michael S, Puck, Jennifer M, Aiuti, Alessandro, Blincoe, Annaliesse, Gaspar, H Bobby, Notarangelo, Luigi D, Grunebaum, Eyal
Rok vydání: 2019
Předmět:
0301 basic medicine
Oncology
Allergy
Adenosine Deaminase
medicine.medical_treatment
Genetic enhancement
Hematopoietic stem cell transplantation
Regenerative Medicine
0302 clinical medicine
Adenosine deaminase
lentivirus
Stem Cell Research - Nonembryonic - Human
Agammaglobulinemia
Immunology and Allergy
Pediatric
biology
Hematopoietic Stem Cell Transplantation
Hematology
Enzyme replacement therapy
Adenosine deaminase deficiency
Stem Cell Research - Nonembryonic - Non-Human
Development of treatments and therapeutic interventions
medicine.symptom
medicine.medical_specialty
Consensus
Immunology
Asymptomatic
Lentiviru
Article
03 medical and health sciences
Gene therapy
Clinical Research
Internal medicine
medicine
Animals
Humans
Enzyme Replacement Therapy
Transplantation
Newborn screening
Severe combined immunodeficiency
5.2 Cellular and gene therapies
business.industry
Genetic Therapy
Stem Cell Research
Severe combined immune deficiency
medicine.disease
030104 developmental biology
biology.protein
Severe Combined Immunodeficiency
business
030215 immunology
Zdroj: The Journal of allergy and clinical immunology, vol 143, iss 3
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2018.08.024
Popis: Inherited defects in adenosine deaminase (ADA) cause a subtype of severe combined immunodeficiency (SCID) known as severe combined immune deficiency caused by adenosine deaminase defects (ADA-SCID). Most affected infants can receive a diagnosis while still asymptomatic by using an SCID newborn screening test, allowing early initiation of therapy. We review the evidence currently available and propose a consensus management strategy. In addition to treatment of the immune deficiency seen in patients with ADA-SCID, patients should be followed for specific noninfectious respiratory, neurological, and biochemical complications associated with ADA deficiency. All patients should initially receive enzyme replacement therapy (ERT), followed by definitive treatment with either of 2 equal first-line options. If an HLA-matched sibling donor or HLA-matched family donor is available, allogeneic hematopoietic stem cell transplantation (HSCT) should be pursued. The excellent safety and efficacy observed in more than 100 patients with ADA-SCID who received gammaretrovirus- or lentivirus-mediated autologous hematopoietic stem cell gene therapy (HSC-GT) since 2000 now positions HSC-GT as an equal alternative. If HLA-matched sibling donor/HLA-matched family donor HSCT or HSC-GT are not available or have failed, ERT can be continued or reinstituted, and HSCT with alternative donors should be considered. The outcomes of novel HSCT, ERT, and HSC-GT strategies should be evaluated prospectively in "real-life" conditions to further inform these management guidelines.
Databáze: OpenAIRE
Externí odkaz: