Scholars@Duke

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening

Publication ,  Journal Article
Jeganathan, K; Byrne, A; White, G; Grunebaum, E; Haddad, E; Hershfield, MS; Tarrant, TK; Henderson, MPA; Pham-Huy, A
Published in: Journal of Human Immunity
January 5, 2026
Published version (DOI) Publisher Link

Standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. Retrospective mass spectrometry (MS/MS) analysis showed diagnostic deoxyadenosine elevation at birth. We advocate integrating MS/MS purine profiling into first-tier screening to enable early diagnosis and timely curative treatment.

Duke Scholars

Teresa Kathleen Tarrant
Author Teresa Kathleen Tarrant Medicine, Rheumatology and Immunology
Michael Steven Hershfield
Author Michael Steven Hershfield Medicine, Rheumatology and Immunology

Published In

Journal of Human Immunity

DOI

10.70962/jhi.20250102

EISSN

3065-8993

Publication Date

January 5, 2026

Volume

2

Issue

1

Publisher

Rockefeller University Press
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Jeganathan, K., Byrne, A., White, G., Grunebaum, E., Haddad, E., Hershfield, M. S., … Pham-Huy, A. (2026). Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening. Journal of Human Immunity, 2(1). https://doi.org/10.70962/jhi.20250102
Jeganathan, Kristine, Adam Byrne, Gabrielle White, Eyal Grunebaum, Elie Haddad, Michael S. Hershfield, Teresa K. Tarrant, Matthew P. A. Henderson, and Anne Pham-Huy. “Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening.” Journal of Human Immunity 2, no. 1 (January 5, 2026). https://doi.org/10.70962/jhi.20250102.
Jeganathan K, Byrne A, White G, Grunebaum E, Haddad E, Hershfield MS, et al. Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening. Journal of Human Immunity. 2026 Jan 5;2(1).
Jeganathan, Kristine, et al. “Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening.” Journal of Human Immunity, vol. 2, no. 1, Rockefeller University Press, Jan. 2026. Crossref, doi:10.70962/jhi.20250102.
Jeganathan K, Byrne A, White G, Grunebaum E, Haddad E, Hershfield MS, Tarrant TK, Henderson MPA, Pham-Huy A. Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening. Journal of Human Immunity. Rockefeller University Press; 2026 Jan 5;2(1).

Published In

Journal of Human Immunity

DOI

10.70962/jhi.20250102

EISSN

3065-8993

Publication Date

January 5, 2026

Volume

2

Issue

1

Publisher

Rockefeller University Press