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Article

MHC II deficient infant identified by newborn screening program for SCID.

Immunologic research - 1 Aug 2018

Marcus Nufar, Stauber Tali, Lev Atar, Simon Amos J, Stein Jerry, Broides Arnon, Somekh Ido, Almashanu Shlomo, Somech Raz

Abstract excerpt

Newborn screening (NBS) programs for severe combined immunodeficiency (SCID), using the TREC-based assay, have enabled early diagnosis, prompt treatment, and eventually changed the natural history of affected infants. Nevertheless, it was believed that some affected infants with residual T cell, such as patients with MHC II deficiency, will be misdiagnosed by this assay. A full immune workup and genetic analysis...

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Identifiers

PMID: 30084052
DOI: 10.1007/s12026-018-9019-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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