Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.

ABSTRACT:

Background

Generalized pustular psoriasis (GPP; MIM 614204) is a rare multisystemic autoinflammatory disease, characterized by episodes of acute generalized erythema and scaling developed with the spread of numerous sterile pustules. Adult-onset immunodeficiency syndrome (AOID) with anti-interferon-γ autoantibodies is an immunodeficiency disorder associated with disruptive IFN-γ signaling.

Methods

Clinical examination and whole exome sequencing (WES) were performed on 32 patients with pustular psoriasis phenotypes and 21 patients with AOID with pustular skin reaction. Histopathological and immunohistochemical studies were performed.

Results

WES identified four Thai patients presenting with similar pustular phenotypes-two with a diagnosis of GPP and the other two with

SUBMITTER: Kantaputra P 

PROVIDER: S-EPMC9859322 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature