The study is currently in progress.
Proposed by: Winnie Ip
The objectives of this study include:
Investigate the clinical and biological manifestations, treatment, and outcome of patients with autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency due to NFKBIA pathogenic variants.
The main objective is to study the survival and disease-free survival of patients with EDA-ID due to NFKBIA pathogenic variants who undergo HSCT or conservative management in order to better define patient selection criteria for HSCT. By studying the clinical spectrum, management and outcome of this patient group, we also aim to describe this heterogeneous group with more granularity, identify disease pattern to allow quicker diagnosis, as well as factors associated with poor clinical outcome. This will assist clinicians in early recognition of EDA-ID due NFKBIA deficiency, as well as help in decision making, in particular which patients should be offered HSCT and who should be treated conservatively.
