Overview
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a very rare inherited blood disorder. It is sometimes called CSF3R-deficient severe congenital neutropenia. The condition affects the immune system by causing a severe shortage of neutrophils — a type of white blood cell that is your body's first line of defense against bacterial and fungal infections. Without enough neutrophils, even minor infections can become life-threatening. This disease is caused by changes (mutations) in both copies of the CSF3R gene. This gene provides instructions for making a protein called the G-CSF receptor, which sits on the surface of developing blood cells in the bone marrow. Normally, this receptor receives signals that tell the bone marrow to produce more neutrophils. When the receptor does not work properly, neutrophil production fails, leaving the body largely defenseless against germs. Symptoms usually appear very early in life, often in the first weeks or months. Babies may develop repeated, severe bacterial infections, mouth sores, skin infections, and fevers. Treatment focuses on boosting neutrophil counts using a medication called G-CSF (filgrastim), which stimulates the bone marrow. For some patients, a bone marrow transplant (stem cell transplant) may offer a potential cure. Without treatment, this condition is very dangerous, but with proper care many patients can live more stable lives.
Key symptoms:
Very low neutrophil count in the bloodRepeated and severe bacterial infectionsFever that keeps coming backMouth sores and gum infectionsSkin infections and abscessesLung infections (pneumonia)Belly pain from infections in the gutSwollen lymph nodesPoor weight gain or slow growth in infantsFatigue and general weakness
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 Autosomal recessive severe congenital neutropenia due to CSF3R 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
No travel grants are currently matched to Autosomal recessive severe congenital neutropenia due to CSF3R deficiency.
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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 at what level should I go to the emergency room?,How often does my child need blood tests, and what are we watching for?,Is my child a candidate for a bone marrow transplant, and when would that be recommended?,What is the long-term risk of leukemia, and how will we monitor for it?,Are there any activity restrictions my child should follow to reduce infection risk?,Should other family members be tested for this gene mutation?,Are there any clinical trials or new treatments we should know about?
Common questions about Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
What is Autosomal recessive severe congenital neutropenia due to CSF3R deficiency?
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a very rare inherited blood disorder. It is sometimes called CSF3R-deficient severe congenital neutropenia. The condition affects the immune system by causing a severe shortage of neutrophils — a type of white blood cell that is your body's first line of defense against bacterial and fungal infections. Without enough neutrophils, even minor infections can become life-threatening. This disease is caused by changes (mutations) in both copies of the CSF3R gene. This gene provides instructions for making a protein called
How is Autosomal recessive severe congenital neutropenia due to CSF3R deficiency inherited?
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive severe congenital neutropenia due to CSF3R deficiency typically begin?
Typical onset of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is neonatal. Age of onset can vary across affected individuals.