What is Gene Therapy

Gene therapy is an emerging medical approach that aims to treat or prevent disease by correcting or replacing faulty genes within a patient’s cells. Instead of managing symptoms, gene therapy targets the underlying genetic cause, offering the possibility of long-term or even permanent benefit. Techniques may include delivering a healthy copy of a gene, repairing a defective one, or altering how genes are expressed. While gene therapy is still developing across many rare and inherited disorders, it has shown growing promise in immune-related conditions.

For diseases like XLP2 - where a single gene plays a critical role in immune regulation - gene therapy represents a potential future path for restoring normal function and improving outcomes.

What does gene therapy mean for XLP2?

Gene therapy holds particular promise for XLP2 because the condition is caused by mutations in a single, clearly defined gene: XIAP (also known as BIRC4). By delivering a corrected version of the XIAP gene to a patient’s own blood or immune stem cells, gene therapy could restore the missing protein function that leads to life-threatening inflammation, immune dysregulation, and vulnerability to infections.

In the future, a successful gene-therapy approach could eliminate the need for high-risk treatments like stem-cell transplantation by directly fixing the root cause of the disease. If developed and deployed widely, gene therapy could not only treat children living with XLP2 but ultimately prevent the lifelong risks associated with the condition—moving us closer to the possibility of eradicating XLP2 altogether.

Lentiviral gene transfer corrected XLP2 deficiency in mice back in 2022

This study tested a lentiviral gene therapy that adds a working copy of the XIAP gene into the cells of mice that lack it — a condition similar to XLP2 in humans. The treated mice showed restored immune cell function and protection from inflammation, meaning the therapy fixed the underlying immune defect caused by the missing XIAP protein.

The research provides proof of concept that replacing the XIAP gene through gene therapy can correct the immune problems seen in XLP2. This is the first major step toward developing a real treatment that targets the disease at its genetic root.

If similar results can be achieved in human cells and safety studies, this approach could move toward clinical trials. That would make XLP2 one of the few rare immune disorders with a path to a curative gene therapy, rather than just symptom management.

Cincinnati Children's XLP2 Health Library

Comprehensive overview of XLP2 by Cincinnati Children’s Hospital, recognized as a leading expert in XLP2 management and treatment in the United States.

XLP Research Trust - XLP2 Studies and Resources

Founded by parents in the United Kingdom, driven to end XLP1 and XLP2 has been a steadfast force in funding global research, supporting affected families, and driving forward toward a human gene‑therapy trial for XLP1 in 2026.

XLP2 Family Booklet

Booklet, developed jointly by PID UK, Great Ormond Street Hospital (GOSH), and the Great North Children’s Hospital, in association with the XLP Research Trust and Histio UK.

Additional resources

XLP2 & Gene Therapy

Resources related to gene therapy opportunities for XLP2, including real-world research and ChatGPT-generated research summaries.

Article: Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency

Lentiviral gene therapy showed promise for treating XLP2 in preclinical mouse models.

Potential XLP2 Gene Therapy Timeline Analysis by ChatGPT

In-depth ChatGPT analysis outlining an optimistic under-5-year timeline for XLP2 gene therapy clinical trials.