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Article

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.

The Journal of pediatrics - 1 Mar 1997

Buckley R H, Schiff R I, Schiff S E, Markert M L, Williams L W, Harville T O, Roberts J L, Puck J M

Abstract excerpt

OBJECTIVE: To determine the relative frequencies of the different genetic forms of severe combined immunodeficiency (SCID) and whether there are distinctive characteristics of the particular genotypes. STUDY DESIGN: The demographic, genetic, and immunologic features of 108 infants with SCID who were treated consecutively at Duke University Medical Center were analyzed. RESULTS: Eighty-nine subjects were boys and...

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Identifiers

PMID: 9063412
DOI: 10.1016/s0022-3476(97)70199-9

Genes

ADA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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