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Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians
Luca Lo Piccolo1, Wasinee Wongkummool1, Phatcharida Jantaree1
1Centre of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
International Journal of Molecular Sciences
|June 27, 2024
Summary
Rare genetic variations in the filaggrin (FLG) gene family are linked to pustular skin diseases like pustular psoriasis and adult-onset immunodeficiency. These FLG variants may be novel genetic risk factors for pustule formation.
Area of Science:
- Dermatology
- Genetics
- Immunology
Background:
- Reactive pustular eruptions (RPEs) encompass conditions like pustular psoriasis (PP) and adult-onset immunodeficiency (AOID).
- The genetic underpinnings of pustular skin diseases are not well understood.
- Genetic factors are implicated in the etiology of RPEs.
Purpose of the Study:
- To investigate the genetic basis of pustular reactions in AOID and PP patients.
- To identify potential genetic risk factors contributing to pustule formation.
Main Methods:
- Whole-exome sequencing was performed on 17 AOID patients with pustular reactions (AOID-PR) and 24 PP patients.
- Analysis of genetic variations within the filaggrin (FLG) gene family.
- Immunohistochemical analysis of skin biopsies to assess FLG protein levels.
Main Results:
- 76% of AOID-PR patients and 58% of PP patients carried rare FLG gene family variations.
- 12 out of 21 FLG SNPs had prior classifications; only p.Ser2706Ter was pathogenic.
- Novel FLG variants were identified, and some caused FLG level reductions similar to the pathogenic variant.
- Identified FLG variants were not previously documented in pustular disorders.
Conclusions:
- Rare FLG variants are potential novel genetic risk factors for pustule formation in AOID and PP.
- FLG gene variations contribute to the pathogenesis of pustular skin diseases.
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