Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome

• Published in: Journal of allergy and clinical immunology Vol. 131; no. 6; pp. 1693 - 1695
• Main Authors: Kuo, Caroline Y., MD, Chase, John, MD, Garcia Lloret, Maria, MD, Stiehm, E. Richard, MD, Moore, Theodore, MD, Aguilera, Maria J. Matas, MSc, Lopez Siles, Juan, PhD, Church, Joseph A., MD
• Format: Journal Article
• Language: English
• Published: United States Mosby, Inc 01.06.2013; Elsevier Limited
• Subjects: Allergy and Immunology; Diagnosis, Differential; Humans; Immune system; Infant; Infant, Newborn; Lymphocytes; Mutation; Neonatal Screening; Severe Combined Immunodeficiency - diagnosis; Severe Combined Immunodeficiency - immunology; Stem cells; California
• ISSN: 0091-6749; 1097-6825
• DOI: 10.1016/j.jaci.2013.01.019

In May 2010, SCID was recommended to be added to the panel of genetic disorders in the national uniform newborn screening (NBS) program.1 SCID screening involves the measurement of T-cell receptor excision circles (TRECs), by-products of T-cell receptor rearrangement that reflect the robustness of T-cell production in the thymus; low blood levels of TRECs suggest profound T lymphopenia and are used to identify newborns for further evaluation. Hematopoietic stem cell transplant remains the only curative treatment, but the increased incidence and severity of graft-versus-host disease in association with pretransplant viral infections emphasize the importance of early diagnosis and intervention.6 In addition, the identification of 2 cases in California within a 6-month period and in patients of an ethnic background not usually associated with this disease suggest that MHC class II deficiency may not be as rare as previously considered.