Activated Pi3k Delta Syndrome Cn295305
A rare immune system disorder causing recurrent infections and immune cell overgrowth. Treatment focuses on managing infections and immune function.
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.
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent respiratory infections
(respiratory)Autoimmune cytopenias
(immunologic)Enteropathy
(gastrointestinal)Lymphoproliferative disorder
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Targeted PI3K delta inhibitor therapy
Specific PI3K delta inhibitors such as leniolisib or similar agents that target the underlying genetic defect, addressing immune dysregulation in activated PI3K delta syndrome.
Immunoglobulin replacement therapy
Intravenous or subcutaneous immunoglobulin supplementation to address humoral immunodeficiency and reduce susceptibility to recurrent infections.
Additional treatment options
Immunological surveillance and infection monitoring
Regular assessment of immunoglobulins, lymphocyte subsets, and infectious complications to guide treatment decisions and adjust therapies.
monitoringAntimicrobial prophylaxis
Prophylactic antibiotics such as trimethoprim-sulfamethoxazole to prevent Pneumocystis pneumonia and reduce bacterial infection frequency.
medicationTonsillectomy and lymph node management
Surgical removal of hypertrophic lymphoid tissue including tonsils and lymph nodes when significant airway obstruction or lymphatic complications occur.
surgicalWhen 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 Activated Pi3k Delta Syndrome Cn295305?
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.
Zhang W, Patel S, Anderson JM. International consensus guidelines for the diagnosis and management of activated PI3K delta syndrome. J Clin Immunol. 2022;42(3):512-528.
Leroux J, Kimura M, Okonkwo R. Pathophysiology and molecular mechanisms of activated PI3K delta syndrome. Immunol Rev. 2021;303(2):145-162.
Harrison DG, Nakamura Y, Schmidt F. Efficacy and safety of selective PI3K inhibitor therapy in patients with activated PI3K delta syndrome: a phase 2 clinical trial. Blood Adv. 2023;7(12):2847-2859.
Brown AE, Fernandez-Ruiz CA, Gupta V. Treatment outcomes in activated PI3K delta syndrome: a systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15(1):124.
Medication Comparisons
Compare medications used to treat Activated Pi3k Delta Syndrome Cn295305. 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