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Birth of a healthy histocompatible sibling following preimplantation genetic diagnosis for chronic granulomatous disease at the blastocyst stage coupled to HLA typing.

Fetal diagnosis and therapy - 1 Jan 2008

Pangalos Constantinos G, Hagnefelt Birgitta, Kokkali Georgia, Pantos Konstantinos, Konialis Christopher P

Abstract excerpt

OBJECTIVE: To perform preimplantation genetic diagnosis (PGD) for chronic granulomatous disease with simultaneous HLA typing in a family case with an affected male child, with the aim of selecting unaffected and HLA-matched embryos to act as donors for hematopoietic stem cell transplantation from umbilical cord blood. METHODS: A flexible, indirect HLA haplotyping protocol, based on single-cell multiplex PCR...

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PMID: 18841023
DOI: 10.1159/000160665

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PGD

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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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