Living with Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
A rare inherited immune condition with low neutrophils, repeated infections, and sometimes heart and urinary differences.
Understanding Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
People often have very low levels of neutrophils, white blood cells that fight infection, which makes serious bacterial infections more likely. It can also affect how the heart, urinary system, and reproductive system form. Some people have global developmental delay, small facial differences, and low platelet counts that come and go. Onset is listed as the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low neutrophil count in the blood
- Serious infection in newborns (sepsis)
- Repeated urinary tract infections
- Low platelets that come and go
- Hole between the upper heart chambers (atrial septal defect)
- Undescended testes (cryptorchidism)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in G6PC3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Neutropenia Network and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the G6PC3 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency; dursun syndrome; g6pc3 deficiency; neutropenia, severe congenital 4, autosomal recessive; pulmonary arterial hypertension, leukopenia, and atrial septal defect; scn4
Patient organizations
- National Neutropenia NetworkAutosomal recessive severe congenital neutropenia due to G6PC3 deficiency · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency.
Explore research for Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Explore actively recruiting Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency studies with HealthSpark.
Find actively recruiting studies for Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.