The dilemma of X-linked agammaglobulinemia carriers.

ABSTRACT:

Background

Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.

Objective

We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.

Methods

In this multicenter, retrospective cohort study, we collected a 3-generation pedigree and data on mothers and sisters of patients with XLA, including carrier status and pregnancy outcome.

Results

Data on 53 adults with XLA, 52 mothers, and 33 sisters were collected. All XLA sisters received genetic counseling. Forty percent

SUBMITTER: Pulvirenti F 

PROVIDER: S-EPMC11759626 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature