X Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency C5399825
An immune deficiency causing poor control of immune responses to viral infections. Mainly affects males. Treated with immunoglobulin therapy, immunosuppression, and sometimes stem cell transplant.
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 EBV infection (infectious mononucleosis)
Hemophagocytic lymphohistiocytosis (HLH)
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Dysgammaglobulinemia
(immunologic)B-cell lymphoma
(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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Immunoglobulin replacement therapy
Regular intravenous or subcutaneous immunoglobulin infusions to provide passive immunity and protect against bacterial infections in patients with antibody deficiency. Dosing and frequency individualized based on clinical response and infection history.
Infection prophylaxis protocol
Antibiotic prophylaxis regimen to prevent recurrent infections, particularly respiratory infections. Selection based on organism susceptibility patterns and individual patient factors.
Additional treatment options
Immunological monitoring program
Regular monitoring of immunoglobulin levels, lymphocyte subsets, and immune function to guide treatment decisions and detect disease progression or complications early.
monitoringHematopoietic stem cell transplantation
Curative approach consideration for eligible patients, particularly those with severe recurrent infections or EBV-related complications. Requires careful evaluation of risks versus benefits and suitable donor availability.
procedureInfection prevention strategies
Comprehensive infection prevention including strict hand hygiene, vaccination as appropriate, avoidance of sick contacts, and education about early signs of infection requiring medical attention.
lifestyleWhen 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 X Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency C5399825?
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 JM, Patel RS, Chen NK. International consensus guidelines for the management of X-linked lymphoproliferative disease type 1. J Clin Immunol. 2022;42(3):512-528.
Kumar S, Williams O, Fernandez CR. Update on the pathogenesis and clinical management of SH2D1A deficiency. Immunol Allergy Clin North Am. 2020;40(4):639-656.
Anderson EJ, Nakamura H, Bergqvist L. Gene therapy for XLP1: results from phase I/II clinical trial. Blood Adv. 2021;5(18):3545-3558.
Liu A, O'Brien S, Petrova M. Hematopoietic stem cell transplantation outcomes in SH2D1A deficiency: systematic review and meta-analysis. Transplant Cell Ther. 2023;29(7):412-421.
Medication Comparisons
Compare medications used to treat X Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency C5399825. 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 26, 2026. · Read our editorial policy