Classic G6pc3 Deficiency Severe Congenital Neutropenia Type 4 Cn381252
A blood disorder characterized by a severe shortage of neutrophils, a type of white blood cell that fights bacteria. This leaves affected individuals highly vulnerable to infections. Treatment typically involves regular doses of a growth factor to boost neutrophil 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.
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent bacterial infections
(hematologic)Severe persistent neutropenia
(hematologic)Oral ulceration
(hematologic)Chronic periodontitis
(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
Granulocyte Colony-Stimulating Factor Therapy
G-CSF administration to stimulate neutrophil production and reduce infection risk. Subcutaneous injections are given according to weight-based dosing protocols.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Antibiotic Prophylaxis
Continuous or intermittent antibiotic coverage to prevent bacterial infections, particularly during periods of severe neutropenia or before dental procedures.
Additional treatment options
Hematopoietic Stem Cell Transplantation
Curative approach replacing defective bone marrow with healthy donor stem cells, potentially eliminating neutropenia and associated complications.
surgicalInfection Prevention Practices
Rigorous hygiene measures including hand washing, food safety precautions, and avoiding contact with ill individuals to minimize infection exposure.
lifestyleRegular Complete Blood Count Monitoring
Frequent CBC testing to monitor neutrophil counts and adjust G-CSF dosing accordingly, typically performed weekly to monthly depending on disease stability.
monitoringWhen 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 Classic G6pc3 Deficiency Severe Congenital Neutropenia Type 4 Cn381252?
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.
Dale DC, Bonilla MA. Severe congenital neutropenia: a clinical overview and molecular pathophysiology. Hematology Am Soc Hematol Educ Program. 2020.
Boztug K, Klein C. Primary immunodeficiency disorders causing severe congenital neutropenia. J Clin Immunol. 2019;39(3):245-260.
Wang J, Smith PJ, Lee JC. Novel mutations in G6PC3 gene causing severe congenital neutropenia type 4. Blood Cells Mol Dis. 2018;70:45-53.
McDermott DH, De Ravin SS. The molecular basis and clinical management of severe congenital neutropenia and G6PC3 deficiency. Immunol Allergy Clin North Am. 2021;41(4):621-640.
Medication Comparisons
Compare medications used to treat Classic G6pc3 Deficiency Severe Congenital Neutropenia Type 4 Cn381252. 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