Overview
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity is an extremely rare inherited disorder of the immune system. In this condition, a specific type of white blood cell called natural killer (NK) cells does not work properly. NK cells are part of the body's first line of defense against infections and abnormal cells, including viruses and some cancers. When these cells cannot kill their targets effectively on their own (a process called spontaneous cytotoxicity), the body becomes more vulnerable to certain infections, particularly viral infections. People with this condition may experience frequent, severe, or unusual infections that are difficult to treat. They may be especially prone to infections caused by viruses such as herpes viruses, Epstein-Barr virus (EBV), cytomegalovirus (CMV), and human papillomavirus (HPV). Some patients may also develop unusual or severe warts, recurrent respiratory infections, or other signs of a weakened immune system. The severity of symptoms can vary from person to person. Because this is such a rare condition, treatment options are limited and largely supportive. Management typically focuses on preventing and treating infections promptly, sometimes with antiviral or antibiotic medications. In severe cases, bone marrow or stem cell transplantation may be considered as a potential curative approach. Patients benefit from close monitoring by immunology specialists to manage their condition over time.
Also known as:
Key symptoms:
Frequent or severe viral infectionsRecurrent respiratory infectionsSevere or widespread wartsRecurrent herpes infectionsUnusual susceptibility to Epstein-Barr virus infectionsCytomegalovirus infectionsSlow recovery from infectionsSkin infectionsFatigue and low energyPossible increased risk of certain cancers
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity.
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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 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity.
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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.How severe is the NK cell defect in my case, and what does that mean for my risk of infections?,Should I or my child take preventive medications to reduce the risk of viral infections?,Are there specific vaccines that should be avoided or that are especially important?,What signs of infection should prompt me to seek emergency care?,Is hematopoietic stem cell transplantation an option for my case, and what are the risks and benefits?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for NK cell deficiencies?
Common questions about Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
What is Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity?
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity is an extremely rare inherited disorder of the immune system. In this condition, a specific type of white blood cell called natural killer (NK) cells does not work properly. NK cells are part of the body's first line of defense against infections and abnormal cells, including viruses and some cancers. When these cells cannot kill their targets effectively on their own (a process called spontaneous cytotoxicity), the body becomes more vulnerable to certain infections, particularly viral infe
How is Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity inherited?
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity?
1 specialists and care centers treating Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.