T B Severe Combined Immunodeficiency Due To Jak3 Deficiency C1833275
A severe inherited immune disorder affecting immune cell signaling pathways. Newborns are at extreme risk for infections; bone marrow transplant offers the best chance of cure.
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.
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent severe infections
(immunologic)Failure to thrive
(growth)Chronic diarrhea
(gastrointestinal)Persistent oral candidiasis
(oral)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)
Standard curative treatment providing functional immune cells from matched sibling or unrelated donor stem cells.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Pneumocystis jirovecii Pneumonia (PJP) Prophylaxis
Prophylactic antibiotics specifically targeting PCP, a common and serious opportunistic infection in SCID patients.
Additional treatment options
Enzyme Replacement and Cytokine Therapy
Experimental approaches using recombinant cytokines to support immune cell development while awaiting definitive transplant.
medicationComprehensive Immune Monitoring
Regular assessment of T-cell, B-cell, and NK-cell counts and function to track immune reconstitution progress.
monitoringEnvironmental Control and Avoidance Measures
Strict precautions against environmental pathogens including water filtration, food safety, and limited public exposure.
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 T B Severe Combined Immunodeficiency Due To Jak3 Deficiency C1833275?
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.
Chinen J, Buckley RH, Puck JM. Practice guidelines for severe combined immunodeficiency. J Clin Immunol. 2022;42(4):789-815.
Notarangelo LD, Pesando S, Bacchetta R. JAK3 deficiency and severe combined immunodeficiency: pathogenesis and therapeutic targets. Immunol Rev. 2021;299(1):73-88.
Haddad E, Hoenig M, Moshous D, et al. Gene therapy for JAK3-deficient SCID: long-term follow-up of patients in phase I/II trial. Blood Adv. 2023;7(12):3154-3167.
Zhang SY, Jouanguy E, Bustamante J, et al. Hematopoietic stem cell transplantation in JAK3 deficiency: a systematic review and meta-analysis. Lancet Haematol. 2020;7(8):e596-e607.
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