Overview
Severe congenital neutropenia due to G6PC3 deficiency is a rare inherited condition that affects the immune system and can also involve other organs. It is sometimes called G6PC3 deficiency or Dursun syndrome. The disease is caused by changes (mutations) in the G6PC3 gene, which provides instructions for making an enzyme important for energy processing in cells, particularly in white blood cells called neutrophils. Neutrophils are a key part of the body's defense against infections. In this condition, the body produces very few neutrophils, a state called severe congenital neutropenia. This leaves patients highly vulnerable to frequent and sometimes life-threatening bacterial and fungal infections starting from birth or early infancy. Beyond the immune system, G6PC3 deficiency can affect the heart (congenital heart defects), blood vessels (prominent veins, a condition sometimes called cutis laxa-like skin), the urinary and reproductive systems, and sometimes the inner ear, leading to hearing loss. Some patients may also have developmental delays. The severity of symptoms can vary widely from person to person, even within the same family. Treatment focuses on boosting neutrophil counts using a medication called granulocyte colony-stimulating factor (G-CSF, such as filgrastim), which helps the bone marrow produce more neutrophils. Patients also need careful monitoring and prompt treatment of infections. In severe cases that do not respond well to G-CSF, bone marrow (hematopoietic stem cell) transplantation may be considered. With appropriate treatment, many patients can have a significantly improved quality of life, though lifelong medical follow-up is essential.
Also known as:
Key symptoms:
Very low white blood cell (neutrophil) counts from birthFrequent and severe bacterial infectionsRecurrent skin infections and abscessesMouth sores and gum diseaseCongenital heart defectsProminent or visible veins under the skinLoose or saggy skin resembling premature agingUrinary or genital abnormalitiesHearing lossPoor growth or failure to thriveLung infections or pneumoniaDevelopmental delays in some casesEnlarged spleenInflammatory bowel problems
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Severe congenital neutropenia due to G6PC3 deficiency.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's neutropenia, and what G-CSF dose will be needed?,What signs of infection should I watch for, and when should I go to the emergency room?,Does my child have any heart defects or other organ involvement that needs treatment?,How often will blood counts and bone marrow checks be needed?,Is bone marrow transplant something we should consider now or in the future?,What is the long-term risk of blood cancer with G-CSF treatment?,Should other family members be tested for carrier status or the condition itself?
Common questions about Severe congenital neutropenia due to G6PC3 deficiency
What is Severe congenital neutropenia due to G6PC3 deficiency?
Severe congenital neutropenia due to G6PC3 deficiency is a rare inherited condition that affects the immune system and can also involve other organs. It is sometimes called G6PC3 deficiency or Dursun syndrome. The disease is caused by changes (mutations) in the G6PC3 gene, which provides instructions for making an enzyme important for energy processing in cells, particularly in white blood cells called neutrophils. Neutrophils are a key part of the body's defense against infections. In this condition, the body produces very few neutrophils, a state called severe congenital neutropenia. This le
How is Severe congenital neutropenia due to G6PC3 deficiency inherited?
Severe congenital neutropenia due to G6PC3 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe congenital neutropenia due to G6PC3 deficiency typically begin?
Typical onset of Severe congenital neutropenia due to G6PC3 deficiency is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Severe congenital neutropenia due to G6PC3 deficiency?
1 specialists and care centers treating Severe congenital neutropenia due to G6PC3 deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.