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Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy.

Immunologic research - 1 Apr 2021

Somekh Ido, Lev Atar, Barel Ortal, Lee Yu Nee, Hendel Ayal, Simon Amos J, Somech Raz

Abstract excerpt

Genetic diagnostic tools including whole-exome sequencing (WES) have advanced our understanding in human diseases and become common practice in diagnosing patients with suspected primary immune deficiencies. Establishing a genetic diagnosis is of paramount importance for tailoring adequate therapeutic regimens, including identifying the need for hematopoietic stem cell transplantation (HSCT) and genetic-based...

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Identifiers

PMID: 33599911
DOI: 10.1007/s12026-021-09179-3

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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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