Severe Combined Immunodeficiency Autosomal Recessive T Cell Negative B Cell Negative Nk Cell Negative Due To Adenosine D C0392607
ADA deficiency is an inherited SCID variant where toxic metabolites destroy immune cells. Both T and B cells are absent, leaving infants vulnerable to severe infections. Enzyme replacement therapy, bone marrow transplant, or gene therapy may restore 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.
Warning signs - seek immediate care
Severe recurrent pneumonia
Progressive neurologic deterioration
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Chronic diarrhea
(gastrointestinal)Persistent candidal skin infections
(integumentary)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.
Hematopoietic Stem Cell Transplantation (HSCT)
Curative treatment involving transplantation of healthy stem cells from a matched donor to restore immune function. Early transplantation before 3.5 months of age provides optimal outcomes.
PEG-ADA Enzyme Replacement Therapy
Polyethylene glycol-conjugated adenosine deaminase provides metabolic replacement in ADA-deficient SCID. Serves as a stabilizing treatment while awaiting transplant or as long-term management when transplant is not feasible.
Additional treatment options
Intravenous Immunoglobulin (IVIG) Replacement
Regular IVIG infusions provide passive humoral immunity to compensate for absent B-cell function. Essential supportive therapy for infection prevention in SCID patients.
medicationGene Therapy
Autologous gene therapy using retroviral or lentiviral vectors to deliver functional ADA gene into patient stem cells. Available primarily for ADA-SCID and offers cure without need for donor.
procedureWhen 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 Autosomal Recessive T Cell Negative B Cell Negative Nk Cell Negative Due To Adenosine D C0392607?
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.
Notarangelo LD, Bacchetta R, Casanova JL, et al. International Consensus Document on Severe Combined Immunodeficiency: Diagnosis and Management Guidelines. J Clin Immunol. 2022.
Hershfield MS. Adenosine Deaminase Deficiency: Pathogenesis and Molecular Mechanisms. Immunol Rev. 2019.
Haddad E, Logan BR, Griffith LM, et al. Hematopoietic Stem Cell Transplantation for Adenosine Deaminase Deficiency: Long-term Follow-up. Blood. 2020.
Kwan A, Abraham RS, Currier R, et al. Newborn Screening for Severe Combined Immunodeficiency in 8 Years: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2021.
Medication Comparisons
Compare medications used to treat Severe Combined Immunodeficiency Autosomal Recessive T Cell Negative B Cell Negative Nk Cell Negative Due To Adenosine D C0392607. 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