Targeted gene under study:
OMIM # 601987
Abstract
ZNF148 genetic variants are primarily associated with developmental delay and syndromic features (OMIM 601987), but the immune phenotype of these patients remains largely unexplored. This study aims to investigate it, focusing on the hypothesis that patients with ZNF148 genetic variants exhibit elevated levels of double-negative (DNT) alpha-beta T cells (DNTab), which could be a potential indicator of immune dysfunction.
We are looking for patients with confirmed ZNF148 genetic variants to perform i) a retrospective analysis to collect clinical data on the ZNF148 syndrome and extend the knowledge on their immune features; and 2) to perform flow cytometry (on site or in our lab) to assess DNTab cell markers, providing insights into their origin and function. Preliminary data from six centers suggest elevated DNTab counts in these patients, pointing to T-cell defects.
This investigation seeks to provide novel insights into the immune phenotype of ZNF148 patients, potentially guiding future molecular studies and informing clinical management strategies.
Coordinating team
Laura Batlle – laura.batlle@vallhebron.cat
Irene Valenzuela – Irene.valenzuela@vallhebron.cat
Institution
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP) and Clinical and Molecular Genetics Unit
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes
3- Linked to a translational/basic research project: No