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Clinical Trial
. 2019 Jan;143(1):405-407.
doi: 10.1016/j.jaci.2018.08.027. Epub 2018 Sep 5.

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

Christopher C Dvorak  1 , Elie Haddad  2 , Rebecca H Buckley  3 , Morton J Cowan  4 , Brent Logan  5 , Linda M Griffith  6 , Donald B Kohn  7 , Sung-Yun Pai  8 , Luigi Notarangelo  9 , William Shearer  10 , Susan Prockop  11 , Neena Kapoor  12 , Jennifer Heimall  13 , Sonali Chaudhury  14 , David Shyr  15 , Sharat Chandra  16 , Geoff Cuvelier  17 , Theodore Moore  7 , Shalini Shenoy  18 , Fred Goldman  19 , Angela R Smith  20 , Gauri Sunkersett  21 , Mark Vander Lugt  22 , Emi Caywood  23 , Troy Quigg  24 , Troy Torgerson  25 , Shanmuganathan Chandrakasan  26 , John Craddock  27 , Blachy J Dávila Saldaña  28 , Alfred Gillio  29 , Evan Shereck  30 , Victor Aquino  31 , Kenneth DeSantes  32 , Alan Knutsen  33 , Monica Thakar  34 , Lolie Yu  35 , Jennifer M Puck  4
Affiliations
Clinical Trial

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

Christopher C Dvorak et al. J Allergy Clin Immunol. 2019 Jan.

Abstract

In a 250 patient cohort from the US and Canada in the current era (2010–2018), we show that over 90% of patients with severe combined immunodeficiency (SCID) can be genetically-characterized.

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Conflict of interest statement

Declarations of interest:

Dr. Puck reports that J Puck’s spouse is employed by and holds stock in Invitae, a genetic diagnosis company.

All other authors: None

References

    1. Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, et al. Immune reconstitution and survival of 100 SCID patients post–hematopoietic cell transplant: a PIDTC natural history study. Blood 2017;130(25):2718–27. - PMC - PubMed
    1. Kwan A, Puck JM. History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol. 2015;39(3):194–205. - PMC - PubMed
    1. Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the united states. JAMA 2014;312(7):729–38. - PMC - PubMed
    1. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol 133(4):1092–8. - PMC - PubMed
    1. Schuetz C, Neven B, Dvorak CC, Leroy S, Ege MJ, Pannicke U, et al. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood 2014;123(2):281–9. - PMC - PubMed

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