Janus Kinase 3 Deficiency Cn377649
A rare immune system disorder where the body cannot fight infections properly. Usually appears in early childhood and may be treated with bone marrow transplant.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Invasive fungal infection
Recurrent severe infections
(Immunologic)Failure to thrive
(General)Chronic diarrhea
(Gastrointestinal)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
Allogeneic Hematopoietic Stem Cell Transplant
Curative approach using healthy donor stem cells to replace the defective immune system; this is the only established curative treatment for JAK3 deficiency.
Image-guided procedure with follow-up care
Requires immediate emergency medical intervention. Do not delay treatment.
Immunoglobulin Replacement Therapy
Regular intravenous or subcutaneous immunoglobulin infusions provide passive immunity against common pathogens while awaiting definitive treatment or when transplant is not feasible.
Additional treatment options
Prophylactic Antimicrobial Therapy
Antibiotic and antifungal prophylaxis tailored to patient's specific infection history helps prevent opportunistic infections common in this immunodeficiency.
medicationGene Therapy (Investigational)
Experimental approach delivering functional copies of the JAK3 gene to patient's hematopoietic stem cells, potentially offering cure without need for donor transplant.
procedureInfection Prevention Measures
Rigorous hand hygiene, respiratory precautions, and avoidance of sick contacts reduce infection risk in immunocompromised patients.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Janus Kinase 3 Deficiency Cn377649?
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.
Vargas-Hernandez A, Maceiras L, Santos CI. Janus Kinase 3 Deficiency: Pathophysiology and Clinical Manifestations. Immunol Rev. 2022.
Notarangelo LD, Fleisher T, Buckley RH. International Consensus Standards for the Diagnosis of Primary Immunodeficiencies: JAK3 Deficiency. J Clin Immunol. 2021.
Farmand S, Nishikawa H, Candotti F. Hematopoietic Stem Cell Transplantation in JAK3-Deficient Patients: A Multicenter Clinical Trial. Blood. 2020.
Schwinger W, Urban C, Benninghoff Y. Outcomes of Hematopoietic Cell Transplantation for JAK3 Deficiency: A Systematic Review and Meta-Analysis. Pediatr Transplant. 2023.
Medication Comparisons
Compare medications used to treat Janus Kinase 3 Deficiency Cn377649. 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 25, 2026. · Read our editorial policy