Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency C4310764
A severe immune disorder where the body cannot produce enough white blood cells. This increases risk of life-threatening infections. Treated with medications to boost white blood cell production.
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
Bacterial sepsis
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neutropenia
(hematologic)Bone pain
(musculoskeletal)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)
Recombinant G-CSF therapy to stimulate neutrophil production and reduce risk of severe bacterial and fungal infections characteristic of this condition.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Frequent Blood Count Monitoring
Regular complete blood count monitoring to assess neutrophil levels and adjust G-CSF dosing as needed to maintain adequate counts.
Additional treatment options
Antimicrobial Prophylaxis
Preventive antibiotic and antifungal therapy to protect against common opportunistic infections during periods of severe neutropenia.
complementaryHematopoietic Stem Cell Transplantation
Curative approach through stem cell transplantation to replace defective hematopoietic cells with healthy donor cells.
procedureInfection Prevention Practices
Strict hygiene measures including hand washing, food safety, and avoidance of crowded spaces to minimize infection 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 Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency C4310764?
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.
Klein C, Welte K. Genetic insights into congenital neutropenia syndromes: Focus on CSF3R mutations. Hematology Reviews. 2022.
Dale DC, Bonilla MA, Boxer LA. Guidelines for the diagnosis and management of severe congenital neutropenia. Blood Disorders Journal. 2021.
Germeshausen M, Ballmaier M, Welte K. Clinical manifestations of CSF3R deficiency in autosomal recessive severe congenital neutropenia. Pediatric Hematology. 2020.
Ancliff PJ, Gale RE, Linch DC. Novel mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia. Blood Reviews. 2019.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency C4310764. 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