Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening Morna J. Dorsey, MD, MMSc, Christopher C. Dvorak,

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Presentation transcript:

Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening Morna J. Dorsey, MD, MMSc, Christopher C. Dvorak, MD, Morton J. Cowan, MD, Jennifer M. Puck, MD Journal of Allergy and Clinical Immunology Volume 139, Issue 3, Pages 733-742 (March 2017) DOI: 10.1016/j.jaci.2017.01.005 Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Identification of T-cell immune defects by means of TREC NBS. Primary immune defects can also be diagnosed based on a history of affected family members or clinical features. Journal of Allergy and Clinical Immunology 2017 139, 733-742DOI: (10.1016/j.jaci.2017.01.005) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Donor selection and conditioning for typical SCID. 1Excludes OS and leaky SCID, both of which are classified as atypical SCID for transplant purposes and require at least some conditioning. This also excludes RS-SCID (eg, DCLREC1 and LIG4), for which donor selection and conditioning are individualized to balance risk of rejection versus chemotherapy toxicity. 2GT clinical trials should be considered for X-linked or ADA-SCID when there is no HLA-matched sibling. 3Based on availability, CMV status, donor age, and other variables. 4Non–radiation-sensitive T−B−NK+ SCID generally requires chemotherapy plus serotherapy for unrelated donor transplantation. 5For X-linked and Janus kinase 3 SCID, a maternal donor with serotherapy alone is preferred over a 9/10 unrelated or 6-7/8 cord donor. 6Consider chemotherapy conditioning for enhanced B-cell and/or T-cell reconstitution and to prevent rejection. URD, Unrelated adult donor. Journal of Allergy and Clinical Immunology 2017 139, 733-742DOI: (10.1016/j.jaci.2017.01.005) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 Evaluation and management of non-SCID TCL (persistently <1500 CD3 T cells). Continued follow-up is needed to determine the degree and persistence of immune impairment, whether prophylactic therapy is needed, and whether an underlying cause can be found. Journal of Allergy and Clinical Immunology 2017 139, 733-742DOI: (10.1016/j.jaci.2017.01.005) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions