Dna Ligase I Deficiency C4016019
A rare genetic disorder impairing DNA repair, leading to growth delays and immune problems. It affects children from birth. Treatment focuses on symptom management and infection prevention.
Key facts at a glance
- ICD-10
- R69
- ICD-11
- MA00.0
- 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 sepsis from opportunistic pathogens
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe recurrent infections
(immunologic)Growth retardation
(endocrine)Radiation sensitivity with cutaneous lesions
(skin)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 deficient antibody production and provide passive immunity against infections.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Infection prophylaxis and avoidance
Comprehensive infection prevention including prophylactic antibiotics when indicated, avoiding crowds and sick contacts, and maintaining up-to-date vaccinations as permitted.
Additional treatment options
Central venous catheter placement
Surgical placement of indwelling venous access devices for long-term immunoglobulin administration and blood product transfusions when peripheral access is problematic.
procedureNutritional support
Optimized nutritional intake with adequate protein, vitamins, and minerals to support immune function and overall health, potentially including supplemental nutrition when indicated.
dietaryImmunologic parameter tracking
Regular laboratory monitoring of immunoglobulin levels, lymphocyte subsets, and infection markers to guide therapy adjustments and assess disease status.
monitoringWhen 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 Dna Ligase I Deficiency C4016019?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Dna Ligase I Deficiency C4016019. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 20, 2026. · Read our editorial policy