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Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis.

Human genetics - 1 Dec 2019

Fonseca Dora Janeth, Caro Luz Adriana, Sierra-Díaz Diana Carolina, Serrano-Reyes Carlos, Londoño Olga, Suárez Yohjana Carolina, Mateus Heidi Eliana, Bolívar-Salazar David, Ramírez Ana Francisca, de-la-Torre Alejandra, Laissue Paul

Abstract excerpt

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare severe cutaneous adverse reactions to drugs. Granulysin (GNLY) plays a key role in keratinocyte apoptosis during SJS/TEN pathophysiology. To determine if GNLY-encoding mutations might be related to the protein's functional disturbances, contributing to SJS/TEN pathogenesis, we performed direct sequencing of GNLY's coding region in a...

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Identifiers

PMID: 31642954
DOI: 10.1007/s00439-019-02066-w

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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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