Overview
X-linked immunoneurologic disorder is an extremely rare genetic condition that affects both the immune system and the nervous system. Because it is X-linked, it primarily affects males, while females may be carriers who sometimes show milder symptoms. The condition is also sometimes referred to by its Orphanet designation (ORPHA:2571) and falls under the broader category of combined immunodeficiency with neurological features. Patients with this disorder typically experience problems with their immune system, making them more vulnerable to infections. At the same time, they develop neurological problems that can include intellectual disability, developmental delays, and other brain-related symptoms. The combination of immune deficiency and neurological involvement makes this condition particularly challenging to manage. Because this disease is so rare, there is limited published information about it, and no specific cure currently exists. Treatment is mainly supportive and focuses on managing infections through immunoglobulin replacement therapy or antibiotics, along with therapies to address developmental and neurological needs. Early diagnosis and a coordinated care team are important for improving quality of life. Genetic counseling is recommended for affected families to understand the inheritance pattern and risks for future children.
Also known as:
Key symptoms:
Frequent or severe infectionsIntellectual disabilityDevelopmental delaysWeak immune systemDifficulty fighting off common illnessesPoor growth or failure to thriveNeurological problemsDelayed speech and languageMotor skill delaysSeizures in some casesLow levels of antibodies in the blood
Clinical phenotype terms (12)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for X-linked immunoneurologic disorder.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked immunoneurologic disorder at this time.
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Specialists
View all specialists →No specialists are currently listed for X-linked immunoneurologic disorder.
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 immunoneurologic disorder.
Community
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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.What specific tests will help confirm my child's diagnosis?,How severe is the immune deficiency, and what infections should I watch for?,Will my child need immunoglobulin replacement therapy, and how often?,What developmental therapies should we start, and how soon?,Is bone marrow transplant an option for my child's case?,What is the risk for future children in our family, and should we pursue genetic counseling?,Are there any clinical trials or research studies we should know about?
Common questions about X-linked immunoneurologic disorder
What is X-linked immunoneurologic disorder?
X-linked immunoneurologic disorder is an extremely rare genetic condition that affects both the immune system and the nervous system. Because it is X-linked, it primarily affects males, while females may be carriers who sometimes show milder symptoms. The condition is also sometimes referred to by its Orphanet designation (ORPHA:2571) and falls under the broader category of combined immunodeficiency with neurological features. Patients with this disorder typically experience problems with their immune system, making them more vulnerable to infections. At the same time, they develop neurologic
How is X-linked immunoneurologic disorder inherited?
X-linked immunoneurologic disorder follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked immunoneurologic disorder typically begin?
Typical onset of X-linked immunoneurologic disorder is infantile. Age of onset can vary across affected individuals.