Overview
Type 1 interferonopathy with immunodeficiency is a very rare genetic condition that has been reclassified (marked as 'OBSOLETE' in medical databases), meaning it may now be categorized under a different or updated disease name. This condition belongs to a group of diseases called type 1 interferonopathies, where the body's immune system produces too much of a signaling protein called type 1 interferon. Normally, type 1 interferons help fight viruses, but when they are overproduced or constantly active, they can cause widespread inflammation and damage to multiple organs, including the skin, lungs, brain, and joints. What makes this particular form distinct is that it also involves immunodeficiency, meaning the immune system is paradoxically both overactive (causing inflammation) and underactive (making it harder to fight certain infections). Patients may experience recurrent infections, skin rashes, fevers, lung disease, and neurological problems. Because this entry is now obsolete, patients previously diagnosed under this code may have been reclassified into more specific interferonopathy diagnoses. Treatment typically focuses on managing inflammation, preventing infections, and using targeted therapies such as JAK inhibitors that block the interferon signaling pathway. If you or your child received this diagnosis, it is important to work with a specialist to determine the most current and accurate classification of the condition.
Key symptoms:
Recurrent or unusual infectionsSkin rashes or soresUnexplained feversLung inflammation or breathing problemsJoint pain or swellingDevelopmental delays or intellectual disabilitySeizures or other neurological problemsPoor growth or failure to thriveEnlarged liver or spleenLow blood cell countsMouth ulcersFatigue and low energyCalcifications in the brain
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Type 1 interferonopathy with immunodeficiency.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Type 1 interferonopathy with immunodeficiency.
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 OBSOLETE: Type 1 interferonopathy with immunodeficiency.
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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.Has the exact genetic cause of my condition been identified, and what does it mean for my specific case?,Since this diagnosis category is now obsolete, what is the most current and accurate name for my condition?,Would a JAK inhibitor or other targeted therapy be appropriate for me or my child?,What infections am I most at risk for, and how can we prevent them?,How often should blood work and immune function be monitored?,Are there any clinical trials or new treatments being studied that I might be eligible for?,Should other family members be tested for this genetic condition?
Common questions about OBSOLETE: Type 1 interferonopathy with immunodeficiency
What is OBSOLETE: Type 1 interferonopathy with immunodeficiency?
Type 1 interferonopathy with immunodeficiency is a very rare genetic condition that has been reclassified (marked as 'OBSOLETE' in medical databases), meaning it may now be categorized under a different or updated disease name. This condition belongs to a group of diseases called type 1 interferonopathies, where the body's immune system produces too much of a signaling protein called type 1 interferon. Normally, type 1 interferons help fight viruses, but when they are overproduced or constantly active, they can cause widespread inflammation and damage to multiple organs, including the skin, lu