Nonsyndromic Severe Congenital Neutropenia Due To G6pc3 Deficiency Cn381251
A blood disorder causing dangerously low white blood cell counts from birth, increasing infection risk. It results from genetic mutations affecting blood cell development. Treatment includes growth factors to boost white blood cells and infection prevention.
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
Ulcerative colitis
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe neutropenia
(hematologic)Delayed wound healing
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Granulocyte colony-stimulating factor (G-CSF) therapy
Recombinant G-CSF administration to stimulate neutrophil production and reduce infection risk in patients with severe congenital neutropenia due to G6PC3 deficiency.
Antibacterial prophylaxis
Preventive antibiotic regimen to protect against bacterial infections during neutropenic periods, particularly in patients with inadequate response to G-CSF therapy.
Additional treatment options
Hematopoietic stem cell transplantation
Curative approach through allogeneic stem cell transplantation to replace the defective hematopoietic system, recommended for patients with poor G-CSF response or complications.
procedureFrequent hematologic monitoring
Regular complete blood count monitoring with differential to track neutrophil trends and adjust G-CSF dosing accordingly.
monitoringInfection prevention strategies
Implementation of rigorous hygiene practices, food safety measures, and prompt medical attention for fever to minimize infection risk in neutropenic patients.
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 Nonsyndromic Severe Congenital Neutropenia Due To G6pc3 Deficiency Cn381251?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication 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