Overview
X-linked lymphoproliferative disease due to XIAP deficiency (also called XIAP deficiency or XLP-2) is a rare inherited immune system disorder that affects almost exclusively males. It is caused by changes (mutations) in the XIAP gene, which normally helps control how immune cells grow and die. When this gene does not work properly, the immune system can become dangerously overactive, especially when triggered by certain infections — most notably the Epstein-Barr virus (EBV), the virus that causes mononucleosis. The most serious complication of XIAP deficiency is a life-threatening condition called hemophagocytic lymphohistiocytosis (HLH). In HLH, the immune system goes into overdrive and starts attacking the body's own organs and blood cells. This can cause very high fevers, an enlarged spleen and liver, low blood counts, and organ failure. Many boys with this condition also develop inflammatory bowel disease, causing ongoing stomach pain and diarrhea. Some develop low levels of antibodies, making them more vulnerable to infections. Treatment focuses on controlling dangerous immune flares with medications that calm the immune system, such as steroids and cyclosporine. The only known cure is a bone marrow transplant (also called a hematopoietic stem cell transplant), which replaces the faulty immune system with a healthy one. Early diagnosis and transplant, before severe organ damage occurs, greatly improves outcomes.
Key symptoms:
Very high, persistent feversEnlarged spleen (splenomegaly)Enlarged liver (hepatomegaly)Low red blood cell counts (anemia)Low white blood cell and platelet countsChronic diarrhea and stomach pain (inflammatory bowel disease)Yellowing of the skin or eyes (jaundice)Swollen lymph nodesFrequent or unusual infectionsExtreme fatigue and weaknessLow antibody levels in the bloodEasy bruising or bleeding
Clinical phenotype terms (22)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventChildren's Hospital Medical Center, Cincinnati — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for X-linked lymphoproliferative disease due to XIAP deficiency.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for X-linked lymphoproliferative disease due to XIAP deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to X-linked lymphoproliferative disease due to XIAP deficiency.
Community
No community posts yet. Be the first to share your experience with X-linked lymphoproliferative disease due to XIAP deficiency.
Start the conversation →Latest news about X-linked lymphoproliferative disease due to XIAP deficiency
No recent news articles for X-linked lymphoproliferative disease due to XIAP deficiency.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Should my son have a bone marrow transplant, and when is the right time to consider it?,What signs of HLH should make me go to the emergency room immediately?,Should other males in our family be tested for XIAP deficiency?,How do we manage the inflammatory bowel disease alongside the immune condition?,Are there any clinical trials or new treatments we should know about?,What vaccinations are safe for my child, and which ones should be avoided?,What is the best way to find a bone marrow transplant center experienced with XIAP deficiency?
Common questions about X-linked lymphoproliferative disease due to XIAP deficiency
What is X-linked lymphoproliferative disease due to XIAP deficiency?
X-linked lymphoproliferative disease due to XIAP deficiency (also called XIAP deficiency or XLP-2) is a rare inherited immune system disorder that affects almost exclusively males. It is caused by changes (mutations) in the XIAP gene, which normally helps control how immune cells grow and die. When this gene does not work properly, the immune system can become dangerously overactive, especially when triggered by certain infections — most notably the Epstein-Barr virus (EBV), the virus that causes mononucleosis. The most serious complication of XIAP deficiency is a life-threatening condition c
How is X-linked lymphoproliferative disease due to XIAP deficiency inherited?
X-linked lymphoproliferative disease due to XIAP deficiency follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked lymphoproliferative disease due to XIAP deficiency typically begin?
Typical onset of X-linked lymphoproliferative disease due to XIAP deficiency is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for X-linked lymphoproliferative disease due to XIAP deficiency?
Yes — 1 recruiting clinical trial is currently listed for X-linked lymphoproliferative disease due to XIAP deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.