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Article

Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).

Pediatric dermatology - 1 Jan 2026

Brufau-Cochs Magí, Martínez Ángela Deya, Vukov Mariana Álvarez, Martí-Sánchez Laura, Guasch Claudia Fortuny, Torres Eulàlia Baselga

Abstract excerpt

A 14-year-old boy was initially diagnosed with erosive oral lichen planus based on clinical and histopathological findings. However, the atypical clinical course and resistance to immunosuppressive therapy raised suspicion for an autoinflammatory disorder or inborn error of immunity. Genetic testing revealed a pathogenic SH2D1A mutation, confirming X-linked lymphoproliferative disease type 1 (XLP-1) in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40907997
DOI: 10.1111/pde.70025

Genes

SH2D1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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