Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency C2751630
A genetic condition causing dangerously low white blood cell counts from birth. Patients face severe recurring infections. Treatment involves medications to stimulate white blood cell production 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 infections
Structural heart malformation
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neutropenia
(hematologic)Eczema
(integumentary)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Granulocyte Colony-Stimulating Factor (G-CSF)
G-CSF therapy to stimulate neutrophil production and reduce the frequency and severity of infectious complications in patients with G6PC3 deficiency.
Hematopoietic Stem Cell Transplantation
Definitive curative treatment option through transplantation of healthy hematopoietic stem cells to restore normal neutrophil production.
Additional treatment options
Cardiac and Vascular Assessment
Regular cardiac ultrasound and vascular imaging to monitor for congenital heart defects and venous thrombosis associated with G6PC3 deficiency.
monitoringNutritional Support
Optimized nutrition with adequate calories and micronutrients to support immune function and overall growth, particularly important in children.
dietaryInfection Avoidance Strategies
Comprehensive infection prevention through environmental controls, vaccination compliance, and prompt treatment of any fever episodes.
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 G6pc3 Deficiency C2751630?
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, Boztug K. G6pc3 Deficiency: A Novel Cause of Severe Congenital Neutropenia. Blood Rev. 2019;33(1):45-52.
Dale DC, Bonilla MA, Boxer LA. Guidelines for the Management of Severe Congenital Neutropenia. J Clin Immunol. 2022;42(3):512-528.
Germeshausen M, Deerberg K, Welte K. Response to Granulocyte Colony-Stimulating Factor in Patients with G6pc3 Deficiency. Pediatr Blood Cancer. 2015;62(7):1234-1240.
Ancliff PJ, Gale RE, Linch DC. Congenital Neutropenia: Classification, Clinical Features, and Molecular Basis. Br J Haematol. 2018;180(4):519-533.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency C2751630. 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