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Article

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.

Journal of clinical immunology - 1 Apr 2018

Cousin Margot A, Smith Matthew J, Sigafoos Ashley N, Jin Jay J, Murphree Marine I, Boczek Nicole J, Blackburn Patrick R, Oliver Gavin R, Aleff Ross A, Clark Karl J, Wieben Eric D, Joshi Avni Y, Pichurin Pavel N, Abraham Roshini S, Klee Eric W

Abstract excerpt

PURPOSE: We report a female infant identified by newborn screening for severe combined immunodeficiencies (NBS SCID) with T cell lymphopenia (TCL). The patient had persistently elevated alpha-fetoprotein (AFP) with IgA deficiency, and elevated IgM. Gene sequencing for a SCID panel was uninformative. We sought to determine the cause of the immunodeficiency in this infant. METHODS: We performed whole-exome...

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Identifiers

PMID: 29671115
DOI: 10.1007/s10875-018-0499-6

Genes

ATM
AFP

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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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