Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.

ABSTRACT:

Introduction

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in AIRE and heterozygous pathogenic variants in FAM111B, respectively. The clinical diagnosis of APECED and POIKTMP rely on the development of two or more characteristic disease manifestations that define the corresponding syndromes. We discuss the shared and distinct clinical, radiographic, and histological features between APECED and POIKTMP presented in our patient case and describe his treatment response to azathioprine for POIKTMP-associated hepatitis, myositis, and pneumonitis.

Methods

Through inform

SUBMITTER: Ferre EMN 

PROVIDER: S-EPMC9981804 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature