SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis.

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 heterozyg

SUBMITTER: Kantaputra P 

PROVIDER: S-EPMC9957076 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature