Overview
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a very rare inherited blood disorder. It is sometimes called CXCR2-deficient severe congenital neutropenia or SCN due to CXCR2 deficiency. In this condition, the body cannot make enough working neutrophils — a type of white blood cell that fights bacterial and fungal infections. Neutrophils are your immune system's first responders. Without enough of them, even minor infections can become life-threatening. The root cause is a change (mutation) in both copies of the CXCR2 gene. This gene gives instructions for making a protein that helps neutrophils move from the bone marrow into the bloodstream where they are needed. When this protein does not work properly, neutrophils get 'stuck' and cannot do their job. As a result, the body is left very vulnerable to serious infections from birth. Symptoms usually appear in the first weeks or months of life and include repeated serious bacterial infections, mouth sores, skin infections, and delayed healing of wounds. Treatment focuses on preventing and treating infections, and may include a medication called G-CSF (granulocyte colony-stimulating factor) to boost neutrophil production. In some cases, a bone marrow transplant may be considered as a more permanent solution. Early diagnosis and careful medical management are essential to improving outcomes for affected children.
Key symptoms:
Very low levels of neutrophils (infection-fighting white blood cells) in the bloodRepeated serious bacterial infections starting in early infancySkin infections and abscessesMouth sores and gum infectionsLung infections (pneumonia)Belly infectionsSlow or poor wound healingFever that keeps coming backSwollen lymph nodesFailure to gain weight or grow normally
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 CXCR2 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency.
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 CXCR2 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 when should I be worried?,How often does my child need blood tests, and what are we watching for?,Is my child a candidate for bone marrow transplantation, and what would that involve?,What infections should I be most worried about, and how do I recognize them early?,Are there any vaccines my child should or should not receive?,What is the long-term risk of leukemia with G-CSF treatment, and how is that monitored?,Should other family members be tested for the CXCR2 gene mutation?
Common questions about Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
What is Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency?
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a very rare inherited blood disorder. It is sometimes called CXCR2-deficient severe congenital neutropenia or SCN due to CXCR2 deficiency. In this condition, the body cannot make enough working neutrophils — a type of white blood cell that fights bacterial and fungal infections. Neutrophils are your immune system's first responders. Without enough of them, even minor infections can become life-threatening. The root cause is a change (mutation) in both copies of the CXCR2 gene. This gene gives instructions for making
How is Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency inherited?
Autosomal recessive severe congenital neutropenia due to CXCR2 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 CXCR2 deficiency typically begin?
Typical onset of Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is neonatal. Age of onset can vary across affected individuals.