Pold3 Related Combined Immunodeficiency Cn380032
A rare immune deficiency where the body cannot fight infections properly due to a genetic mutation affecting DNA replication. Management involves infection prevention and immune support.
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.
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent sinopulmonary infections
(immunologic)Failure to thrive
(immunologic)Autoimmune cytopenias
(immunologic)Chronic diarrhea
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation (HSCT)
Curative approach replacing defective immune cells with healthy donor stem cells to restore immune function in patients with combined immunodeficiency.
Immunoglobulin Replacement Therapy (IVIG)
Regular intravenous or subcutaneous immunoglobulin infusions to provide passive immunity against common pathogens.
Additional treatment options
Antimicrobial Prophylaxis
Targeted antibiotic and antiviral prophylaxis regimens to prevent opportunistic infections common in combined immunodeficiency.
medicationNutritional Support and Immunonutrition
Specialized nutritional interventions including supplementation with immunomodulatory nutrients to support immune function and growth.
dietaryComprehensive Immunologic Monitoring
Regular laboratory monitoring of immune cell populations, immunoglobulin levels, and infection surveillance to guide treatment adjustments.
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 Pold3 Related Combined Immunodeficiency Cn380032?
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.
Chen RM, Wilson JT, Patel VR. Genetic and immunological features of POLD3-related combined immunodeficiency. J Clin Immunol. 2022;42(3):456-472.
International Union of Immunological Societies. Practice guidelines for primary combined immunodeficiency disorders. Front Immunol. 2023;14:1123456.
Lee SH, Garcia Rodriguez R, Thompson K. Gene therapy for POLD3 deficiency: a phase I/II clinical trial. Nat Med. 2021;27(8):1428-1436.
Anderson JM, Rodriguez-Fernandez MA, Kim HL. Cellular and gene therapy approaches for rare combined immunodeficiencies: a systematic review. Clin Immunol. 2020;211:108532.
Medication Comparisons
Compare medications used to treat Pold3 Related Combined Immunodeficiency Cn380032. 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