Overview
Orphanet code 183770 refers to a rare genetic immune disease that falls within the broader category of primary immunodeficiency disorders. These are conditions where the immune system does not work properly due to changes (mutations) in specific genes. Patients with this type of disorder often have trouble fighting off infections because their immune cells do not develop or function as they should. This can lead to frequent, severe, or unusual infections that healthy individuals would normally be able to handle without difficulty. Symptoms can vary widely depending on the exact genetic cause and which part of the immune system is affected. Common problems include repeated bacterial, viral, or fungal infections, poor growth in children, chronic diarrhea, skin rashes, and swollen lymph nodes. Some patients may also develop autoimmune problems, where the immune system mistakenly attacks the body's own tissues. Treatment depends on the specific type and severity of the immune defect. Options may include immunoglobulin replacement therapy (infusions of antibodies), preventive antibiotics or antifungal medications, and in some cases, hematopoietic stem cell transplantation (bone marrow transplant), which can be curative. Gene therapy is an emerging option for certain types. Early diagnosis and management by an immunology specialist are essential to reduce complications and improve quality of life.
Key symptoms:
Frequent or severe infectionsInfections that don't respond well to standard antibioticsRecurring pneumonia or lung infectionsChronic ear infectionsChronic sinus infectionsPersistent skin infections or rashesChronic diarrheaPoor weight gain or failure to thrive in childrenSwollen lymph nodes or enlarged spleenMouth sores or thrush that keeps coming backAutoimmune symptoms such as joint pain or blood cell problemsDelayed growth and developmentUnexplained fevers
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsAssistance Publique Hopitaux De Marseille — NA
University of Southern California
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Rare genetic immune disease.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
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 Rare genetic immune disease.
Community
No community posts yet. Be the first to share your experience with Rare genetic immune disease.
Start the conversation →Latest news about Rare genetic immune disease
Disease timeline:
New trial: Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Phase NA trial recruiting. ARN extraction from muscle biopsies
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 type of immune deficiency does my child or I have, and which gene is affected?,What treatments are available, and is bone marrow transplant or gene therapy an option?,How can we reduce the risk of infections in daily life?,Are there any vaccines that should be avoided or that household members should receive?,What signs of infection or complications should prompt an emergency room visit?,How often will we need follow-up appointments and blood tests?,Are there clinical trials or new therapies being studied for this condition?
Common questions about Rare genetic immune disease
What is Rare genetic immune disease?
Orphanet code 183770 refers to a rare genetic immune disease that falls within the broader category of primary immunodeficiency disorders. These are conditions where the immune system does not work properly due to changes (mutations) in specific genes. Patients with this type of disorder often have trouble fighting off infections because their immune cells do not develop or function as they should. This can lead to frequent, severe, or unusual infections that healthy individuals would normally be able to handle without difficulty. Symptoms can vary widely depending on the exact genetic cause
Are there clinical trials for Rare genetic immune disease?
Yes — 1 recruiting clinical trial is currently listed for Rare genetic immune disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Rare genetic immune disease?
14 specialists and care centers treating Rare genetic immune disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.