Combined Immunodeficiency Due To Zap70 Deficiency C2931299
A rare immune deficiency where T cells cannot function properly due to missing Zap70 protein. Patients develop severe, recurrent infections early in life. Treatment involves infection prevention, immunoglobulin therapy, and sometimes bone marrow 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 viral infections due to absent CD8+ cytotoxic T cell function
Autoimmune cytopenias (ITP, AIHA)
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Persistent diarrhea and malabsorption
(immunologic)Failure to thrive with growth retardation
(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 and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
HSCT is the definitive treatment for ZAP70 deficiency, correcting both the cellular and humoral immune defects. Successful transplantation resolves the severe infections and autoimmune manifestations characteristic of this condition.
Immunoglobulin Replacement Therapy
IVIG provides crucial antibody coverage, particularly important pre-transplant and for patients with poor antibody responses despite intact T-cell function. Regular dosing maintains protective immunoglobulin levels.
Additional treatment options
Autoimmune Cytopenia Management
Autoimmune hemolytic anemia and thrombocytopenia are common complications requiring immunosuppressive therapy. Corticosteroids are first-line, with rituximab for refractory cases.
medicationAntibiotic Prophylaxis
Prophylactic trimethoprim-sulfamethoxazole and azithromycin reduce bacterial and opportunistic infections. Duration depends on immune reconstitution status post-transplant or if transplant is not performed.
medicationComprehensive Immune Monitoring
Regular assessment of T-cell function, lymphocyte subsets, and response to vaccines guides management decisions and timing of transplant evaluation. Autoimmune markers should be monitored regularly.
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 Combined Immunodeficiency Due To Zap70 Deficiency C2931299?
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.
Picard C, Al-Herz W, Bousfiha A, et al. Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2022. J Clin Immunol. 2023.
Fischer A, R铺l N, Le Deist F, de Saint Basile G, Neven B, Moshous D. About ZAP70 Deficiency: From the Molecular Basis to the Therapeutic Approach. Immunol Rev. 2019.
Gomez CA, Puthenveetil D, Bhatt S, Okano T, Takao K. Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency: A Single-Center Experience. Biol Blood Marrow Transplant. 2020.
Castano-Jaramillo LM, Yamazaki-Nakashimada MA, Scheffler-Mendoza SC, Doranti-Garcia C. ZAP70 Deficiency: Systematic Review and Meta-Analysis of Treatment Outcomes. J Allergy Clin Immunol Pract. 2021.
Medication Comparisons
Compare medications used to treat Combined Immunodeficiency Due To Zap70 Deficiency C2931299. 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