Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening - 19/04/17
, Christopher C. Dvorak, MD, Morton J. Cowan, MD, Jennifer M. Puck, MDAbstract |
Severe combined immunodeficiency (SCID) is characterized by severely impaired T-cell development and is fatal without treatment. Newborn screening (NBS) for SCID permits identification of affected infants before development of opportunistic infections and other complications. Substantial variation exists between treatment centers with regard to pretransplantation care, and transplantation protocols for NBS identified infants with SCID, as well as infants with other T-lymphopenic disorders detected by using NBS. We developed approaches to management based on the study of infants identified by means of NBS for SCID who received care at the University of California, San Francisco (UCSF). From August 2010 through October 2016, 32 patients with NBS-identified SCID and leaky SCID from California and other states were treated, and 42 patients with NBS-identified non-SCID T-cell lymphopenia were followed. Our center's approach supports successful outcomes; systematic review of our practice provides a framework for diagnosis and management, recognizing that more data will continue to shape best practices.
Le texte complet de cet article est disponible en PDF.Key words : Severe combined immunodeficiency, newborn screening, transplantation, T cells, T-cell lymphopenia
Abbreviations used : ADA, AFP, AT, CMV, ERT, GT, GvHD, HCT, NBS, NK, OS, PAP, PIDTC, PPD, PTSD, RAG, RS-SCID, SCID, TCL, TREC, UCSF
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| M.J.C., C.C.D., and J.M.P. are supported by Primary Immunodeficiency Treatment Consortium (PIDTC) National Institutes of Health (NIH)/National Institute of Allergy and Infectious Disease (NIAID) and National Center for Advancing Traditional Sciences (NCATS) ORD grant U54 AI082973 and R13 AI094943. J.M.P. is supported by NIH/NIAID grant RO1 AI105776 and an NIH/NCATS UCSF CTSI grant (UL1 TR000004). |
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| Disclosure of potential conflict of interest: M. J. Dorsey's institution has received consultancy fees from CSL Behring and has received grants from the NIH, Platts-Ross Foundation, Sigma-Tau, and Aimmune. C. C. Dvorak has received consultancy fees from Jazz Pharmaceuticals. M. J. Cowan's institute has received grant U54, R13 from NIAID-NIH for this work and grants from CA Institute of Regenerative Medicine for other works; he has personally received board membership from Bluebird Bio, Homology Medicine, and Exogen Bio; he has received Royalties from UpToDate and stock options from Homology Medicine. J. M. Puck's institution has received grants from the NIH/NIAID, ORD and CA Institute for Regenerative Medicine; her spouse is employed by InVitae; and her spouse has received stock options from InVitae. |
Vol 139 - N° 3
P. 733-742 - mars 2017 Retour au numéro
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