Overview
Autosomal recessive severe congenital neutropenia (also sometimes called Kostmann disease or Kostmann syndrome, after the Swedish physician who first described it) is a rare inherited blood disorder present from birth. It causes the body to produce very few neutrophils — a type of white blood cell that is essential for fighting bacterial infections. Without enough neutrophils, the immune system cannot defend the body properly, leaving affected individuals highly vulnerable to serious, life-threatening infections from a very early age. The condition is caused by changes (mutations) in certain genes that are needed for the normal development of neutrophils in the bone marrow. Because it follows an autosomal recessive pattern, a child must inherit a faulty copy of the gene from both parents to develop the disease. Parents who each carry one faulty copy are usually healthy but have a 1 in 4 chance of having an affected child with each pregnancy. The main treatment is a medication called granulocyte colony-stimulating factor (G-CSF), sold under brand names such as filgrastim (Neupogen) or lenograstim. G-CSF stimulates the bone marrow to produce more neutrophils and has dramatically improved survival and quality of life for most patients. For those who do not respond well to G-CSF, a bone marrow transplant (also called a stem cell transplant) can be curative. Without treatment, the condition is life-threatening in infancy and early childhood.
Key symptoms:
Recurrent, severe bacterial infections starting in infancyInfections of the skin, such as boils and abscessesMouth sores and gum infections (gingivitis)Lung infections (pneumonia) that keep coming backBelly pain and infections of the intestinesFever that comes on suddenly and frequentlySwollen lymph nodesEar infections that recur oftenSlow healing of wounds or cutsFailure to gain weight and grow normally in infancyIncreased risk of developing leukemia (blood cancer) over time
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.
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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.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene mutation does my child have, and what does that mean for their prognosis and treatment?,How often does my child need blood tests, and what results should prompt me to call you immediately?,What is the right dose of G-CSF for my child, and how do I know if it is working?,What is my child's risk of developing leukemia, and how will you monitor for this?,Should we consider a bone marrow transplant, and if so, when would be the right time?,Are there any clinical trials or gene therapy studies my child might be eligible for?,What should I do if my child develops a fever — should I go straight to the emergency room?
Common questions about Autosomal recessive severe congenital neutropenia
What is Autosomal recessive severe congenital neutropenia?
Autosomal recessive severe congenital neutropenia (also sometimes called Kostmann disease or Kostmann syndrome, after the Swedish physician who first described it) is a rare inherited blood disorder present from birth. It causes the body to produce very few neutrophils — a type of white blood cell that is essential for fighting bacterial infections. Without enough neutrophils, the immune system cannot defend the body properly, leaving affected individuals highly vulnerable to serious, life-threatening infections from a very early age. The condition is caused by changes (mutations) in certain
How is Autosomal recessive severe congenital neutropenia inherited?
Autosomal recessive severe congenital neutropenia 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 typically begin?
Typical onset of Autosomal recessive severe congenital neutropenia is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Autosomal recessive severe congenital neutropenia?
8 specialists and care centers treating Autosomal recessive severe congenital neutropenia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.