Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity C3810342
A rare immune disorder affecting natural killer cells that fight infections. Both sexes can be affected. Treatment involves infection prevention and immune system support.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Severe herpesvirus infections
Recurrent sinopulmonary infections
Hemophagocytic lymphohistiocytosis
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Lymphoma predisposition
(immunologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Immunoglobulin replacement therapy
Regular intravenous or subcutaneous immunoglobulin infusions to compensate for the antibody deficiency and restore immune function.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Prophylactic antibiotics
Continuous or intermittent antibiotic prophylaxis to prevent bacterial infections, particularly respiratory and sinus infections.
Additional treatment options
Infection prevention practices
Rigorous hand hygiene, avoidance of sick contacts, and respiratory precautions to minimize exposure to infectious agents.
lifestyleImmune function and infection surveillance
Regular monitoring of immunoglobulin levels, antibody responses to vaccines, and early detection of infections through prompt medical evaluation.
monitoringHematopoietic stem cell transplantation
Curative approach that replaces the defective immune system with healthy donor cells, particularly considered for severe cases with recurrent life-threatening infections.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity C3810342?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Chinn IK, Shearer WT. Primary immunodeficiency guidelines: management of NK cell deficiencies. J Clin Immunol. 2022.
Orange JS, Zhang SY. Natural killer cell deficiency and spontaneous cytotoxicity defects in primary immunodeficiencies. Immunol Rev. 2020.
Gomez JC, Patel R, Lee MT. Autosomal recessive NK cell deficiency: clinical manifestations and genetic characterization. Clin Immunol. 2018.
Cunningham-Rundles C, Ponda PP. Primary immunodeficiency disorders: NK cell defects. In: Stiehm's Immune Deficiencies. 2020.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy