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Article

When Neurodevelopment Meets Autoimmunity: Pemphigus Foliaceus in Rett Syndrome Expands the Clinical Spectrum-A Case Report.

International journal of molecular sciences - 30 Jul 2026

Singh Jatinder, Chishti Samiya, Ameenpur Shashidhar, Fiori Federico, McFadden Leighton, Mirza Hassan Aziz, Vidmar Lovro, Zahavi Zvi, Santosh Paramala

Abstract excerpt

Rett syndrome (RTT, OMIM 312750) is a complex multisystem neurodevelopmental disorder. Evidence suggests that RTT may have an autoimmune component and inflammatory activation. However, the autoimmune manifestations remain poorly described. Pemphigus foliaceus is a debilitating autoimmune blistering condition caused by IgG autoantibodies that target desmoglein-1 (Dsg1), resulting in widespread skin blistering and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42589518
DOI: 10.3390/ijms27156862
PMCID: PMC13467044

Genes

MECP2
DSG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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