Overview
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency is a very rare inherited condition that affects two important systems in the body at the same time: the immune system and the hormone-producing adrenal glands. It is sometimes referred to by the abbreviation NK cell deficiency with adrenal insufficiency. Natural killer (NK) cells are a type of white blood cell that acts as a first line of defense against infections, especially viral infections, and against abnormal cells like cancer cells. In this condition, the body either has very few NK cells or the ones it has do not work properly, leaving the person much more vulnerable to serious infections. At the same time, the adrenal glands — two small glands that sit on top of the kidneys — do not produce enough of the hormones the body needs, especially cortisol and sometimes aldosterone. These hormones help control stress responses, blood pressure, blood sugar, and salt balance. Without enough of them, the body struggles to cope with everyday stress, illness, or injury. People with this condition may experience repeated or unusually severe infections, extreme tiredness, low blood pressure, and other signs of adrenal insufficiency from early in life. Treatment focuses on replacing the missing hormones with medication and protecting against infections. Because this condition is so rare, management is highly individualized and usually requires a team of specialists.
Also known as:
Key symptoms:
Repeated or unusually severe infections, especially viral infectionsExtreme tiredness and low energyLow blood pressureLow blood sugar (hypoglycemia)Salt craving or imbalance of salt in the bodyPoor weight gain or failure to thrive in infantsNausea, vomiting, or stomach painDarkening of the skin in some areas (hyperpigmentation)Dizziness or faintingSlow recovery from illnessSusceptibility to certain viral infections such as herpes viruses
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventSodium Phenylbutyrate: FDA approved
Adjunctive therapy in the chronic managment of patients with urea cycle disorders involving deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase, or argininosuccinic acid synthetase.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableSodium Phenylbutyrate
Adjunctive therapy in the chronic managment of patients with urea cycle disorders involving deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase, or argininosuccinic acid synthetas…
Adjunctive therapy in the chronic managment of patients with urea cycle disorders involving deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase, or argininosuccinic acid synthetase.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency.
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 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency.
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 gene change does my child have, and what does that mean for their health?,How do I recognize an adrenal crisis, and exactly what should I do if one happens?,What infections should I be most worried about, and are there preventive treatments we should use?,Should my child receive any special vaccines, or are there vaccines they should avoid?,What are the 'sick day rules' for adjusting steroid doses during illness or surgery?,Is a bone marrow transplant an option for my child, and what are the risks and benefits?,Are there any clinical trials or research studies we could participate in?
Common questions about Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
What is Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency?
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency is a very rare inherited condition that affects two important systems in the body at the same time: the immune system and the hormone-producing adrenal glands. It is sometimes referred to by the abbreviation NK cell deficiency with adrenal insufficiency. Natural killer (NK) cells are a type of white blood cell that acts as a first line of defense against infections, especially viral infections, and against abnormal cells like cancer cells. In this condition, the body either has very few NK cells or the ones
How is Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency inherited?
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency typically begin?
Typical onset of Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is infantile. Age of onset can vary across affected individuals.
What treatment and support options exist for Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency?
1 patient support program are currently tracked on UniteRare for Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency. See the treatments and support programs sections for copay assistance, eligibility, and contact details.