TY - JOUR
T1 - Idiopathic T cell lymphopenia identified in New York State Newborn Screening
AU - Albin-Leeds, Stephanie
AU - Ochoa, Juliana
AU - Mehta, Harshna
AU - Vogel, Beth H.
AU - Caggana, Michele
AU - Bonagura, Vincent
AU - Lehman, Heather
AU - Ballow, Mark
AU - Rubinstein, Arye
AU - Siegel, Subhadra
AU - Weiner, Leonard
AU - Weinberg, Geoffrey A.
AU - Cunningham-Rundles, Charlotte
N1 - Publisher Copyright:
© 2017
PY - 2017/10
Y1 - 2017/10
N2 - Quantification of T-cell receptor excision circles (TRECs) for newborn screening for SCID has advanced the diagnosis of severe combined immune deficiency (SCID). However, it has led to the identification of infants with T cell lymphopenia without known cause. The clinical characteristics, appropriate laboratory monitoring, and outcomes of patients remain unclear. We performed a retrospective review of clinical and laboratory studies for 26 infants collected from 7 New York State referral centers from 2010 to 2016 with low TRECs (mean, 70 copies/μl) and subnormal CD3 counts (mean, 1150/cubic mm). Over time absolute CD3 counts increased in 17 and decreased in 9; 22 (85%) have done well clinically regardless of absolute T cell values. Additional infants with TCL will continue to be identified in newborn screening panels. While most patients seem to do well clinically, parameters for diagnosis and monitoring have yet to be formalized, and additional information needs to be collected, causes and outcomes reported.
AB - Quantification of T-cell receptor excision circles (TRECs) for newborn screening for SCID has advanced the diagnosis of severe combined immune deficiency (SCID). However, it has led to the identification of infants with T cell lymphopenia without known cause. The clinical characteristics, appropriate laboratory monitoring, and outcomes of patients remain unclear. We performed a retrospective review of clinical and laboratory studies for 26 infants collected from 7 New York State referral centers from 2010 to 2016 with low TRECs (mean, 70 copies/μl) and subnormal CD3 counts (mean, 1150/cubic mm). Over time absolute CD3 counts increased in 17 and decreased in 9; 22 (85%) have done well clinically regardless of absolute T cell values. Additional infants with TCL will continue to be identified in newborn screening panels. While most patients seem to do well clinically, parameters for diagnosis and monitoring have yet to be formalized, and additional information needs to be collected, causes and outcomes reported.
KW - Idiopathic T-cell lymphopenia
KW - Newborn screening
KW - Severe combined immunodeficiency
KW - TREC level
UR - http://www.scopus.com/inward/record.url?scp=85024837380&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85024837380&partnerID=8YFLogxK
U2 - 10.1016/j.clim.2017.07.002
DO - 10.1016/j.clim.2017.07.002
M3 - Article
C2 - 28694137
AN - SCOPUS:85024837380
SN - 1521-6616
VL - 183
SP - 36
EP - 40
JO - Clinical Immunology
JF - Clinical Immunology
ER -