SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis
1
Issued Date
2023-02-01
Resource Type
eISSN
20734425
Scopus ID
2-s2.0-85148866941
Pubmed ID
36833193
Journal Title
Genes
Volume
14
Issue
2
Rights Holder(s)
SCOPUS
Bibliographic Citation
Genes Vol.14 No.2 (2023)
Suggested Citation
Kantaputra P., Daroontum T., Chuamanochan M., Chaowattanapanit S., Kiratikanon S., Choonhakarn C., Intachai W., Olsen B., Tongsima S., Ngamphiw C., Pontisso P., Cox T.C., Ounjai P. SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis. Genes Vol.14 No.2 (2023). doi:10.3390/genes14020266 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/82412
Title
SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis
Author's Affiliation
Faculty of Medicine, Chiang Mai University
Faculty of Medicine, Khon Kaen University
UMKC School of Medicine
Thailand Ministry of Education
Mahidol University
Harvard School of Dental Medicine
Thailand National Science and Technology Development Agency
Chiang Mai University
Università degli Studi di Padova
European Reference Network for Rare Neurological Diseases (ERN-RND)
Faculty of Medicine, Khon Kaen University
UMKC School of Medicine
Thailand Ministry of Education
Mahidol University
Harvard School of Dental Medicine
Thailand National Science and Technology Development Agency
Chiang Mai University
Università degli Studi di Padova
European Reference Network for Rare Neurological Diseases (ERN-RND)
Other Contributor(s)
Abstract
Background: Generalized pustular psoriasis (GPP; MIM 614204) is a rare and severe pustular autoinflammatory skin disease in which acute generalized erythema and scaling develop with numerous sterile pustules. GPP shares skin manifestations, especially pustular skin reaction, with adult-onset immunodeficiency (AOID) with anti-interferon-γ autoantibodies, an autoimmune disease. Methods: Clinical examinations and whole-exome sequencing (WES) were performed on 32 patients with pustular psoriasis phenotypes and 21 patients with AOID with pustular skin reaction. Immunohistochemical and histopathological studies were performed. Results: WES identified three Thai patients presenting with similar pustular phenotypes—two with a diagnosis of AOID and the other with GPP. A heterozygous missense variant chr18:g.61325778C>A NM_006919.2: c.438G>T; NP_008850.1: p.Lys146Asn; rs193238900 in SERPINB3 was identified in two patients: one with GPP and the other with AOID. The other patient who had AOID carried a heterozygous missense variant chr18:g.61323147T>C NM_006919.2: c.917A>G; NP_008850.1: p.Asp306Gly in SERPINB3. Immunohistochemical studies showed overexpression of SERPINA1 and SERPINB3, a hallmark of psoriatic skin lesions. Conclusions: Genetic variants in SERPINB3 are associated with GPP and AOID with pustular skin reaction. The skin of patients with GPP and AOID carrying SERPINB3 mutations showed overexpression of SERPINB3 and SERPINA1. Clinically and genetically, GPP and AOID appear to share pathogenetic mechanisms.