Single-centre comparison of non-familial, familial and monogenic lupus.

ABSTRACT:

Objectives

There is a significant genetic contribution to systemic lupus erythematosus (SLE). Monogenic SLE is a distinct form of SLE. We investigated whether familial or known monogenic lupus cases are distinguishable from non-familial lupus by clinical or laboratory phenotype in a population with high rates of consanguinity.

Patients and methods

We performed a retrospective case-control study on 24 multiplex families, comprising 62 cases, and 95 non-familial lupus controls. Demographic and Systemic Lupus International Collaborating Clinics criteria were compared between the two groups. Familial cases were also evaluated by whole exome sequencing and cellular phenotyping. Statistical analysis was performed using R Studio.

Results

Familial and non-familial lupus cases

SUBMITTER: Alshekaili J 

PROVIDER: S-EPMC12494222 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature