What is XLP2?
X-linked lymphoproliferative disease type 2 (XLP2), also known as XIAP deficiency, is an extremely rare genetic disorder that impairs the immune system’s ability to respond properly, affecting fewer than 1 in 5 million people worldwide.
How is XLP2 diagnosed?
XLP2 is identified by genetic testing to detect mutations in the XLP2 gene, along with evaluation of clinical symptoms such as recurrent infections, immune overreactions, and gastrointestinal problems.
Can XLP2 be life-threatening?
Yes, XLP2 is a life-threatening genetic disorder that severely weakens the immune system, making children highly vulnerable to severe infections and dangerous immune reactions like HLH.
Are there treatments available?
Currently, the only treatment for XLP2 is a bone marrow transplant—a high-risk, potentially life-threatening procedure with modest success rates.
Can gene therapy cure XLP2?
Not available today, gene therapy will one day correct the XLP2 gene defect, restore immune function, and offer a lasting, targeted treatment for XLP2.
How far is XLP2 gene therapy?
According to the leading expert (August 2025), a viable treatment is still at least five years away - but we are confident the timeline can be shortened with focused effort.
About XLP2
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.
Contact
Reach out anytime for support or questions
contact@parentsagainstxlp2.org
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