Overview
Severe congenital neutropenia due to JAGN1 deficiency is a rare inherited blood disorder present from birth. It is also sometimes called JAGN1-related severe congenital neutropenia. The condition causes the body to produce very few neutrophils — a type of white blood cell that is essential for fighting bacterial and fungal infections. Without enough neutrophils, the immune system cannot protect the body properly, leaving affected individuals highly vulnerable to serious, life-threatening infections from a very early age. The main problem in this disease starts in the bone marrow, where blood cells are made. A change (mutation) in the JAGN1 gene disrupts the normal development of neutrophils, causing them to die off before they mature. This leads to a condition called neutropenia, meaning dangerously low neutrophil counts in the blood. Babies and young children with this condition often experience repeated bacterial infections, mouth sores, skin infections, and inflammation of the gums. Infections can spread quickly and become life-threatening if not treated promptly. The main treatment is a medication called granulocyte colony-stimulating factor, or G-CSF (filgrastim), which stimulates the bone marrow to produce more neutrophils. This treatment significantly reduces the risk of serious infections and has greatly improved outcomes for many patients. For those who do not respond well to G-CSF, a bone marrow transplant (also called a stem cell transplant) may offer a potential cure. Ongoing monitoring by a specialist is essential throughout life.
Also known as:
Key symptoms:
Repeated and severe bacterial infections starting in infancyMouth sores (oral ulcers) that keep coming backInflamed, swollen, or bleeding gums (gingivitis)Skin infections and abscessesFever that comes on suddenly and frequentlyLung infections (pneumonia) occurring repeatedlyBelly pain and digestive problems related to infectionsSlow healing of wounds or cutsSwollen lymph nodesFatigue and general weakness due to frequent illness
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 JAGN1 deficiency.
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Specialists
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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.What neutrophil count level is safe for my child, and when should I be worried?,How do we adjust the G-CSF dose, and how often will blood counts need to be checked?,What are the signs of febrile neutropenia, and exactly what should I do if my child develops a fever?,What is the long-term risk of developing a blood cancer, and how will you monitor for this?,Is my child a candidate for a bone marrow transplant, and when would that be considered?,Should other family members be tested for the JAGN1 gene mutation?,Are there any clinical trials or new treatments available for JAGN1-related neutropenia?
Common questions about Severe congenital neutropenia due to JAGN1 deficiency
What is Severe congenital neutropenia due to JAGN1 deficiency?
Severe congenital neutropenia due to JAGN1 deficiency is a rare inherited blood disorder present from birth. It is also sometimes called JAGN1-related severe congenital neutropenia. The condition causes the body to produce very few neutrophils — a type of white blood cell that is essential for fighting bacterial and fungal infections. Without enough neutrophils, the immune system cannot protect the body properly, leaving affected individuals highly vulnerable to serious, life-threatening infections from a very early age. The main problem in this disease starts in the bone marrow, where blood
How is Severe congenital neutropenia due to JAGN1 deficiency inherited?
Severe congenital neutropenia due to JAGN1 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 JAGN1 deficiency typically begin?
Typical onset of Severe congenital neutropenia due to JAGN1 deficiency is neonatal. Age of onset can vary across affected individuals.