Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years Antonia Kwan, PhD, MRCPCH,

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Presentation transcript:

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years Antonia Kwan, PhD, MRCPCH, Joseph A. Church, MD, Morton J. Cowan, MD, Rajni Agarwal, MD, Neena Kapoor, MD, Donald B. Kohn, MD, David B. Lewis, MD, Sean A. McGhee, MD, Theodore B. Moore, MD, E. Richard Stiehm, MD, Matthew Porteus, MD, Constantino P. Aznar, PhD, Robert Currier, PhD, Fred Lorey, PhD, Jennifer M. Puck, MD Journal of Allergy and Clinical Immunology Volume 132, Issue 1, Pages 140-150.e7 (July 2013) DOI: 10.1016/j.jaci.2013.04.024 Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 A, California SCID NBS. Sample numbers are shown at each stage (boxes), according to TREC and β-actin values and nursery care as a proxy for clinical status (see also Fig E1). Infants with low TREC numbers on 2 DBSs or positive initial results were recalled to receive flow cytometry. B, Distribution of regular nursery versus NICU samples at each NBS stage. *Fourteen infants were deceased, and 1 was lost to follow-up before flow cytometry. Journal of Allergy and Clinical Immunology 2013 132, 140-150.e7DOI: (10.1016/j.jaci.2013.04.024) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 TCL by intervention and underlying condition. Cases requiring immune-restoring therapy included 11 cases of typical and 3 cases of leaky SCID and 1 case of complete DiGeorge syndrome. There were 6 cases of variant SCID, 12 cases of congenital syndromes, 9 cases of secondary TCL, and 8 preterm infants (weight ranges shown). All were advised to avoid live rotavirus and other live vaccines and to receive only cytomegalovirus-negative, irradiated blood products. BW, Birth weight; CID, combined immunodeficiency. Journal of Allergy and Clinical Immunology 2013 132, 140-150.e7DOI: (10.1016/j.jaci.2013.04.024) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 T-cell concentrations in infants with initial TCL associated with preterm birth, obtained at gestational ages on the x axis. Birth weights (BW) are indicated. Subsequent T-cell concentrations were greater than 1500 cells/μL (dotted line); the threshold was set by using the California Newborn Screening program. Journal of Allergy and Clinical Immunology 2013 132, 140-150.e7DOI: (10.1016/j.jaci.2013.04.024) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 California SCID NBS algorithm. aCutoff values for TREC and β-actin gene copies/μL of blood, assuming each 3.2-mm punch of dried blood filter represents 3 μL of blood. Samples with more than 40 TRECs/μL on initial testing were considered normal. Samples with 40 TRECs/μL or less had repeat TREC with β-actin testing; of these, samples with 25 TRECs/μL or less were categorized as positive if β-actin values were normal, and infants were recalled for lymphocyte subset determination. bDAF, DNA amplification failure. This requires a repeat heel-stick sample, or if it is already a second sample, recall for lymphocyte subset determination is required. cNICU, Neonatal intensive care unit. dIncomplete, NICU screen result with 6 to 25 TRECs/μL and a β-actin copy number of 10,000 or less. This requires a repeat heel-stick sample. eCBC, Complete blood count. Journal of Allergy and Clinical Immunology 2013 132, 140-150.e7DOI: (10.1016/j.jaci.2013.04.024) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions