Primary immunodeficiency testing in a Massachusetts tertiary care NICU: persistent challenges in the extremely premature population

• Published in: Pediatric research 2021-02, Vol.89 (3), p.549-553
• Main Authors: Frazer, Lauren C., O’Connell, Amy E.
• Format: Article
• Language: English
• Subjects: Adrenal Cortex Hormones - adverse effects; Age; Clinical Research Article; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - epidemiology; Early Diagnosis; Female; Gestational Age; Hospitals, Pediatric - statistics & numerical data; Humans; Immunologic Memory; Immunologic Tests - statistics & numerical data; Infant, Extremely Premature - immunology; Infant, Newborn - immunology; Infant, Premature, Diseases - diagnosis; Infant, Premature, Diseases - epidemiology; Intensive care; Intensive Care Units, Neonatal - statistics & numerical data; Lymphocyte Count; Lymphopenia - epidemiology; Male; Massachusetts - epidemiology; Medical screening; Medicine; Medicine & Public Health; Neonatal care; Neonatal Screening; Newborn babies; Pediatric Surgery; Pediatrics; Population; Primary Immunodeficiency Diseases - diagnosis; Primary Immunodeficiency Diseases - epidemiology; Primary Immunodeficiency Diseases - genetics; Procedures and Techniques Utilization; Retrospective Studies; Severe Combined Immunodeficiency - diagnosis; Severe Combined Immunodeficiency - epidemiology; T cell receptors; T-Lymphocyte Subsets - immunology; Tertiary Healthcare - statistics & numerical data
• ISSN: 0031-3998; 1530-0447
• DOI: 10.1038/s41390-020-0886-6

Background Prematurity presents a diagnostic challenge in interpreting primary immunodeficiency (PID) testing. Methods We retrospectively reviewed the charts of all infants in our level IV referral neonatal intensive care unit (NICU) in Massachusetts, with immunologic testing performed from 2006 to 2018. Results The overall rate of PID testing was enriched in our population, with 1% of admitted patients having extended immunologic testing. The addition of TREC (T cell receptor excision circle) newborn screening in Massachusetts in 2009 increased the proportion of infants tested for PID in our NICU by 3-fold (1.21% post-newborn screening (NBS) vs. 0.46% pre-NBS). A majority of the term and late preterm (≥34 weeks) infants (31 of 41, 76%), as well as very premature (29–33 weeks) infants (12 of 17, 71%), who had immune testing, had a genetic diagnosis associated with secondary immunodeficiency or a PID. Most infants who were born extremely premature (EP,