CONTEXT: A newborn blood screening (NBS) test that could identify infants with a profound deficiency of T cells may result in a reduction in mortality. OBJECTIVE: To determine if quantitating T-cell receptor excision circles (TRECs) using real-time quantitative polymerase chain reaction on DNA extracted from dried blood spots on NBS cards can detect infants with T-cell lymphopenia in a statewide program. DESIGN, SETTING, AND PARTICIPANTS: Between January 1 and December 31, 2008, the Wisconsin State Laboratory of Hygiene screened all infants born in Wisconsin for T-cell lymphopenia by quantitating the number of TRECs contained in a 3.2-mm punch (approximately 3 microL of whole blood) of the NBS card. Flow cytometry to enumerate the number of T cells was performed on full-term infants and preterm infants when they reached the equivalent of at least 37 weeks' gestation with TREC values of less than 25/microL. Infants with T-cell lymphopenia were evaluated by a clinical immunologist. MAIN OUTCOME MEASURES: The number of infants with TREC values of less than 25/microL with T-cell lymphopenia confirmed by flow cytometry. RESULTS: Exactly 71,000 infants were screened by the TREC assay. Seventeen infants aged at least 37 weeks' gestation had at least 1 abnormal TREC assay (TREC values < 25/microL), 11 of whom had samples analyzed by flow cytometry to enumerate T cells. Eight infants demonstrated T-cell lymphopenia. The causes of the T-cell lymphopenia included DiGeorge syndrome (n = 2), idiopathic T-cell lymphopenia (n = 2), extravascular extravasation of lymphocytes (n = 3), and a Rac2 mutation (n = 1). The infant with the Rac2 mutation underwent successful cord blood transplantation. CONCLUSION: In a statewide screening program, use of the TREC assay performed on NBS cards was able to identify infants with T-cell lymphopenia.
CONTEXT: A newborn blood screening (NBS) test that could identify infants with a profound deficiency of T cells may result in a reduction in mortality. OBJECTIVE: To determine if quantitating T-cell receptor excision circles (TRECs) using real-time quantitative polymerase chain reaction on DNA extracted from dried blood spots on NBS cards can detect infants with T-cell lymphopenia in a statewide program. DESIGN, SETTING, AND PARTICIPANTS: Between January 1 and December 31, 2008, the Wisconsin State Laboratory of Hygiene screened all infants born in Wisconsin for T-cell lymphopenia by quantitating the number of TRECs contained in a 3.2-mm punch (approximately 3 microL of whole blood) of the NBS card. Flow cytometry to enumerate the number of T cells was performed on full-term infants and preterm infants when they reached the equivalent of at least 37 weeks' gestation with TREC values of less than 25/microL. Infants with T-cell lymphopenia were evaluated by a clinical immunologist. MAIN OUTCOME MEASURES: The number of infants with TREC values of less than 25/microL with T-cell lymphopenia confirmed by flow cytometry. RESULTS: Exactly 71,000 infants were screened by the TREC assay. Seventeen infants aged at least 37 weeks' gestation had at least 1 abnormal TREC assay (TREC values < 25/microL), 11 of whom had samples analyzed by flow cytometry to enumerate T cells. Eight infants demonstrated T-cell lymphopenia. The causes of the T-cell lymphopenia included DiGeorge syndrome (n = 2), idiopathic T-cell lymphopenia (n = 2), extravascular extravasation of lymphocytes (n = 3), and a Rac2 mutation (n = 1). The infant with the Rac2 mutation underwent successful cord blood transplantation. CONCLUSION: In a statewide screening program, use of the TREC assay performed on NBS cards was able to identify infants with T-cell lymphopenia.
Authors: Mei Wang Baker; Ronald H Laessig; Murray L Katcher; John M Routes; William J Grossman; James Verbsky; Daniel F Kurtycz; Charles D Brokopp Journal: Public Health Rep Date: 2010 May-Jun Impact factor: 2.792
Authors: James W Verbsky; Mei W Baker; William J Grossman; Mary Hintermeyer; Trivikram Dasu; Benedetta Bonacci; Sreelatha Reddy; David Margolis; James Casper; Miranda Gries; Ken Desantes; Gary L Hoffman; Charles D Brokopp; Christine M Seroogy; John M Routes Journal: J Clin Immunol Date: 2011-11-10 Impact factor: 8.317
Authors: Michele Caggana; Elizabeth A Jones; S I Shahied; Susan Tanksley; Cheryl A Hermerath; Ira M Lubin Journal: Public Health Rep Date: 2013 Sep-Oct Impact factor: 2.792