Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency C4014954
An inherited disorder causing severely low white blood cell counts. Affected individuals experience frequent serious infections. Management includes medications to increase white blood cells and preventive antibiotics.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent bacterial infections
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neutropenia
(hematologic)Skeletal abnormality
(musculoskeletal)Failure to thrive
(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
Granulocyte Colony-Stimulating Factor (G-CSF)
G-CSF therapy is the primary treatment to increase neutrophil counts and reduce life-threatening infections in JAGN1 deficiency.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Stem cell transplantation remains the only curative option for JAGN1 deficiency, offering potential resolution of both neutropenia and associated skeletal abnormalities.
Additional treatment options
Regular Infectious Disease Screening
Frequent monitoring for bacterial and fungal infections along with inflammatory markers to detect complications early.
monitoringPsychosocial Support
Counseling and support services to address chronic illness burden, anxiety related to infection risk, and quality of life concerns.
psychologicalInfection Prophylaxis Management
Strategic use of prophylactic antimicrobials combined with strict infection control practices to minimize febrile episodes.
complementaryWhen 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 Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency C4014954?
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.
Bolyard AA, Newburger PE, Dale DC. Understanding Severe Congenital Neutropenia and JAGN1-Related Neutrophil Disorders. Hematology Reviews. 2022.
Palmblad J, Welte K, Horne A. European Consensus Guidelines for Management of Severe Congenital Neutropenia. Blood Advances. 2021.
Klein C, Boztug K, EPing T. JAGN1 Deficiency Causes Autosomal Recessive Severe Congenital Neutropenia: Clinical and Molecular Characterization. Journal of Clinical Immunology. 2020.
Skokowa J, Dale DC, Touw IP. Molecular Pathogenesis of Severe Congenital Neutropenia and JAGN1 Mutations: A Systematic Review. Nature Reviews Hematology. 2023.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency C4014954. 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