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Article

Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis.

Journal of assisted reproduction and genetics - 1 Jul 2012

Tomashov-Matar Reut, Biran Galia, Lagovsky Irina, Kotler Neomi, Stein Anat, Fisch Benjamin, Sapir Onit, Shohat Mordechai

Abstract excerpt

PURPOSE: To describe the identification of a new mutation responsible for causing human severe combined immunodeficiency syndrome (SCID). In a large consanguineous Israeli Arab family, this served as a diagnostic tool and enabled us to carry out preimplantation genetic diagnosis (PGD). We also demonstrated that PGD for homozygosity alleles is feasible. METHODS: We carried out genome-wide screening followed by...

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Source

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Identifiers

PMID: 22527898
DOI: 10.1007/s10815-012-9765-3
PMCID: PMC3401258

Genes

PGD

Provenance

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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