Severe Combined Immunodeficiency Autosomal Recessive T Cell Negative B Cell Negative Nk Cell Positive C1832322
This rare autosomal recessive SCID affects T cell development while preserving NK cells. Without functioning T cells, affected infants experience life-threatening infections early in life. Early hematopoietic stem cell transplantation offers the best chance for survival.
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 respiratory infections
Severe disseminated BCG infection
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Failure to thrive
(gastrointestinal)Persistent lymphopenia
(hematologic)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
Hematopoietic Stem Cell Transplantation (HSCT)
Definitive curative treatment using healthy donor stem cells to重建 functional T and B lymphocyte populations. Early intervention before infections occur significantly improves survival rates exceeding 90%.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Antimicrobial Prophylaxis Regimen
Combination prophylactic antibiotics and antifungals to prevent opportunistic infections during immune compromise. Typically includes TMP-SMX, azithromycin, and fluconazole.
Additional treatment options
Intravenous Immunoglobulin (IVIG) Therapy
Regular immunoglobulin replacement therapy provides essential antibody coverage in the absence of functional B cells. Dosing individualized based on weight and IgG levels.
medicationDietary and Nutritional Support
Enhanced nutritional support including micronutrient supplementation to support immune function and growth. May require specialized formulas or tube feeding if oral intake is insufficient.
lifestyleComprehensive Immune Monitoring
Regular laboratory monitoring of lymphocyte subsets, immunoglobulin levels, and T-cell function assays to track immune recovery and guide treatment decisions post-transplant.
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 Severe Combined Immunodeficiency Autosomal Recessive T Cell Negative B Cell Negative Nk Cell Positive C1832322?
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.
Shearer WT, Dunn E, Notarangelo LD, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease. J Clin Immunol. 2014.
Fischer A, Revy P, Le Deist F. Severe combined immunodeficiencies: from genetic basis to clinical management. Immunol Rev. 2019.
Haddad E, Hoenig M, Neven B, et al. Hematopoietic stem cell transplantation for autosomal recessive T-B-NK+ severe combined immunodeficiency. Blood Adv. 2021.
Cassano B, Puck J, Schwartz G. Genetic heterogeneity in T-B-NK+ severe combined immunodeficiency. Clin Immunol. 2022.
Medication Comparisons
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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