Overview
Common variable immunodeficiency (CVID) phenotype due to IKAROS functional haploinsufficiency is a rare inherited immune disorder caused by changes in the IKZF1 gene. IKAROS is a protein that plays a critical role in the development and function of immune cells, especially B cells and T cells. When one copy of the IKZF1 gene does not work properly, the body cannot produce enough antibodies (immunoglobulins) to fight infections effectively. This leads to a condition that looks very similar to common variable immunodeficiency. People with this condition typically experience frequent and recurring infections, particularly of the respiratory tract (sinuses, ears, and lungs), as well as gastrointestinal infections. Over time, repeated lung infections can cause permanent lung damage called bronchiectasis. Some patients may also develop autoimmune problems, where the immune system mistakenly attacks the body's own tissues, leading to conditions like low blood cell counts or inflammatory bowel-like symptoms. Treatment centers on replacing the missing antibodies through immunoglobulin replacement therapy, which is given either through a vein (intravenously) or under the skin (subcutaneously). Antibiotics are used to treat and sometimes prevent infections. Patients with autoimmune complications may need additional immunosuppressive medications. Early diagnosis and consistent treatment can significantly improve quality of life and reduce the risk of long-term organ damage.
Also known as:
Key symptoms:
Frequent sinus infectionsRecurring ear infectionsRepeated pneumonia or lung infectionsChronic coughChronic diarrheaLow levels of antibodies in the bloodBronchiectasis (permanent lung damage from repeated infections)Autoimmune blood cell destruction (low platelets or red blood cells)Enlarged spleenEnlarged lymph nodesFatigue and low energyPoor growth in childrenSkin infectionsJoint pain or swelling
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency.
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Specialists
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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 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.How severe is my (or my child's) immune deficiency based on current lab results?,What type of immunoglobulin replacement therapy do you recommend, and how often will it be needed?,Should my family members be tested for the IKZF1 gene mutation?,What vaccines are safe for me (or my child) to receive, and which should be avoided?,What signs of infection or complications should prompt me to seek emergency care?,How often should we have follow-up appointments and monitoring tests?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
What is Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency?
Common variable immunodeficiency (CVID) phenotype due to IKAROS functional haploinsufficiency is a rare inherited immune disorder caused by changes in the IKZF1 gene. IKAROS is a protein that plays a critical role in the development and function of immune cells, especially B cells and T cells. When one copy of the IKZF1 gene does not work properly, the body cannot produce enough antibodies (immunoglobulins) to fight infections effectively. This leads to a condition that looks very similar to common variable immunodeficiency. People with this condition typically experience frequent and recurri
How is Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency inherited?
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.