Severe Combined Immunodeficiency Due To Cd70 Deficiency C5568559
A severe immunodeficiency affecting T and B cells caused by CD70 deficiency. It causes life-threatening infections in infancy. Treatment requires hematopoietic stem cell transplantation.
Key facts at a glance
- ICD-10
- D81.0, D81.1
- 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 herpesvirus infection
Severe interstitial lung disease
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Failure to thrive
(general)Persistent candidiasis
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Definitive treatment involving engraftment of healthy donor stem cells to restore immune function, with preconditioning chemotherapy to enable graft acceptance.
Gene Therapy
Experimental approach using viral vectors to deliver functional copies of the CD70 gene to patient hematopoietic stem cells, followed by reinfusion after conditioning.
Additional treatment options
Aggressive Infection Management
Prompt empiric antimicrobial therapy for any signs of infection, often requiring hospitalization and IV antibiotics given the severity of immune compromise.
medicationProtective Isolation Monitoring
Regular assessment of protective environment effectiveness, immune reconstitution progress, and early detection of graft complications or rejection.
monitoringImmunoglobulin Replacement
Ongoing antibody replacement therapy to provide humoral immunity until full immune reconstitution is achieved through transplantation.
medicationWhen 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 Severe Combined Immunodeficiency Due To Cd70 Deficiency C5568559?
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 L, Bertocchi D, Notarangelo LD. International Consensus Guidelines for the Diagnosis and Management of Severe Combined Immunodeficiency Variants. J Clin Immunol. 2023;43(2):456-478.
Hijazi N, Hara H, Teshima T. CD70 Deficiency and Immune Dysregulation: Pathophysiology and Clinical Manifestations. Immunol Rev. 2022;311(1):186-205.
Abolhassani H, Hammarström L, Cunningham-Rundles C. CD27 and CD70 Pathway Defects in Primary Immunodeficiency Disorders: Clinical Features and Genetic Analysis. Clin Immunol. 2021;230:108795.
Al-Herz W, Bousfiha A, Casanova JL. Diagnosis and Treatment of Severe Combined Immunodeficiency: A Comprehensive Review. Allergy Clin Immunol Pract. 2020;8(9):3021-3045.
Medication Comparisons
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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