The study has been approved by ESID.
Proposed by: Julius Köppen and Jana Pachlopnik Schmid
Dear colleagues,
We would like to kindly invite you to participate in a collaborative effort to identify patients with ZNFX1 deficiency. We are collecting clinical, immunological and transplant data on patients with ZNFX1 deficiency. ZNFX1 deficiency has been described by independent groups, with initial reports emphasizing either susceptibility to mycobacterial disease or a multisystem inflammatory phenotype with viral susceptibility and immune dysregulation (e.g., Vavassori et al., J Allergy Clin Immunol 2021). Our aim is to capture the full range of presentations, treatments, and outcomes across centers.
If you care for any patients with confirmed or suspected ZNFX1 deficiency, please get in touch via email: jana.pachlopnik@kispi.uzh.ch
A short case report form will be provided upon expression of interest. All data will be handled confidentially.
The objectives of this study include:
- Describe the clinical phenotype and disease manifestations of ZNFX1 deficiency
- Characterize the immunological profile of affected patients
- Evaluate treatment strategies and their outcomes
- Describe the outcome of HSCT, where applicable
- Explore genotype–phenotype correlations and long-term follow-up data
