Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

ABSTRACT:

Background

Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects.

Objective

We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers.

Methods

Genetics, clinical features, laboratory values, and outcomes of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers.

Results

We identified 133 subjects from 54 unrelated families carrying 45 different heterozygous CTLA4 mutations, including 28 previously undescribed mutations. Ninety mutation carriers were considered affected, suggesting a clinical penetrance of at least 67%; median age of onset was 11 years,

SUBMITTER: Schwab C 

PROVIDER: S-EPMC6215742 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature