A novel mutation in TRAC in a patient with abnormal newborn screening for severe combined immunodeficiency

Kwan A., Abraham R.S., Currier R., Brower A., Andruszewski K., Abbott J.K., Baker M., Ballow M., Bartoshesky L.E., Bonagura V.R., Bonilla F.A., Brokopp C., Brooks E., Caggana M., Celestin J., Church J.A., Comeau A.M., Connelly J.A., Cowan M.J., Cunningham-Rundles C., Dasu T., Dave N., De La Morena M.T., Duffner U., Fong C.-T., Forbes L., Freedenberg D., Gelfand E.W., Hale J.E., Hanson I.C., Hay B.N., Hu D., Infante A., Johnson D., Kapoor N., Kay D.M., Kohn D.B., Lee R., Lehman H., Lin Z., Lorey F., Abdel-Mageed A., Manning A., McGhee S., Moore T.B., Naides S.J., Notarangelo L.D., Orange J.S., Pai S.-Y., Porteus M., Rodriguez R., Romberg N., Routes J., Ruehle M., Rubenstein A., Saavedra-Matiz C.A., Scott G., Scott P.M., Secord E., Seroogy C., Shearer W.T., Siegel S., Silvers S.K., Stiehm E.R., Sugerman R.W., Sullivan J.L., Tanksley S., Tierce M.L., Verbsky J., Vogel B., Walker R., Walkovich K., Walter J.E., Wasserman R.L., Watson M.S., Weinberg G.A., Weiner L.B., Wood H., Yates A.B., and Puck J.M. 2014. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. J. Am. Med. Assoc. 312(7): 729–738.

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