Bone marrow failure
Severe congenital neutropenia (SCN)
If you or someone you love has just heard this diagnosis, start here. This guide explains what the condition is, how it is usually treated and whether a transplant plays any part.
Severe congenital neutropenia is a group of genetic disorders that cause persistently low levels of neutrophils, white blood cells that help fight infection. Growth-factor treatment benefits many people. A donor transplant is considered when infection control or marrow findings make that the safer long-term option.
Other names and abbreviations
SCN, congenital neutropenia, ELANE-associated neutropenia, genetic neutropenia, Severe infantile genetic neutropenia, Kostmann disease (historically used; a specific inherited subtype)
In short
- Severe congenital neutropenia is a group of genetic conditions. They leave the body with too few infection-fighting white blood cells (neutrophils).
- Treatment centers on G-CSF, a medicine often given by injection that boosts neutrophils. Antibiotics, dental care and regular blood and marrow checks are also part of care.
- A transplant from a related or unrelated donor may be considered if G-CSF does not work well. It may also be considered if serious infections continue or worrying marrow changes appear.
Jump to a section
Underlined words open a short explanation. See all terms
Where transplant fits
TransplantationA treatment that gives a patient healthy blood-forming stem cells through a vein. The cells travel to the bone marrow and replace faulty marrow or marrow damaged by treatment. They can come from the patient or a donor. may be considered for poor treatment response, continuing serious infections or concerning marrowThe soft, spongy tissue in the center of most bones. Red bone marrow holds the blood-forming stem cells that make red blood cells, white blood cells and platelets. changes, including MDSA group of cancers in which the bone marrow does not make enough healthy blood cells and abnormal cells appear in the blood or marrow. Also called myelodysplastic syndromes (MDS). Sometimes they turn into acute myeloid leukemia. or leukemia. It uses a suitable related or unrelated donor; it need not wait until leukemia has developed.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health.
Key facts
- Who it affects
- Genetic neutropenia often causes infections early in life. Several genes and syndromic forms exist, and their associated findings differ.
- How common
- About 1 in 200,000 peopleEstimated incidence, general population, region not stated; MedlinePlus Genetics, U.S. National Library of Medicine (updated May 2022) Source: How common
- How it is passed on
- It can be inherited in more than one way.
- Cells used in a transplant
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
- Where a donor fits
- Limited transplant role
The condition
What it is
NeutrophilsA type of white blood cell that is one of the first to respond to germs such as bacteria. Low neutrophil levels raise the risk of serious infection. are an important defense against bacteria and fungi. In severe congenital neutropenia, their production or survival is impaired, often causing serious infections from early life.
This is a group of disorders, not a single gene diagnosis. It is distinct from neutropenia caused by medicines, immune disease or other acquired causes. Cyclic neutropenia has a different pattern, even though variants in the same gene can sometimes cause either condition.
Marked as affected: granulocytes.
- Blood stem cell, In the bone marrow
- Myeloid line
- Red blood cells
- Platelets
- Granulocytes, Affected
- Monocytes
- Lymphoid line
- B cells
- Plasma cells, Develop from B cells
- T cells
- NK cells, Natural killer cells
- Myeloid line
What causes it
ELANE is a common genetic cause, but several other genes are involved. Some forms mainly affect neutrophils; others can also affect development, metabolism or other organs.
Inheritance may be dominant, recessive or X-linked depending on the gene, and a variant can arise for the first time in a child. Genetic assessment helps explain family risks and may influence monitoring and treatment.
Depends on the gene: ELANE forms are autosomal dominant, HAX1 and some other forms autosomal recessive, and rare forms X-linked. Many cases have no family history.
Symptoms and effects
Possible problems include mouth ulcers, gum disease, skin infections, abscesses and pneumonia. A low neutrophil count can also allow infection to become serious quickly, so families need a clear plan for fever or other concerning symptoms.
Some forms carry increased risks of myelodysplastic neoplasms or acute myeloid leukemia. That risk is not a prediction of an individual outcome. Blood and marrow monitoring look for changes that may alter care.
Diagnosis and treatment
How severe congenital neutropenia is diagnosed
It usually shows up at birth or soon after, with repeated infections, mouth sores or gum disease. A blood count shows very few neutrophils. Neutropenia is called severe when the absolute neutrophil count (ANC) is below 0.5 × 10⁹ per liter. That is 500 cells per microliter. A blood specialist (hematologist) first looks for more common causes. These include infections, medicines, low vitamin B12 or folate, and antibodiesA protein made by the immune system that sticks to one specific target, such as a germ. Some wrongly target the body's own tissues. Lab-made antibody medicines can target markers such as CD20 or CD38 on some cancer cells. against neutrophils.
European guidelines advise a bone marrow test before G-CSF treatment starts. The marrow is checked under the microscope and tested for chromosome and gene changes linked to leukemia. In many people, neutrophils stop maturing at an early stage in the marrow. Genetic testing confirms the cause. Testing often starts with the ELANE gene, which is changed in about 45% of people with severe congenital neutropenia. Panels that test many genes at once are also used.
For young children with a family history of severe neutropenia or repeated severe infections, the guidelines advise genetic testing early. After diagnosis, they advise a marrow test with chromosome and gene studies every year. This looks for early changes that could lead to MDS or leukemia.
How it is treated
Granulocyte colony-stimulating factor, or G-CSF, encourages neutrophil production. It is commonly given by injection, with dose and schedule tailored to blood counts, infections and side effects. Antibiotics and dental care remain important.
Many people obtain useful infection control with G-CSF. A poor response, substantial treatment requirements or continuing serious infections can prompt transplant assessment. Myelodysplastic or leukemic changes are also important indications.
Allogeneic transplantation can replace the abnormal blood-forming system. Its timing reflects the genetic disorder, marrow findings, infection history, age, organ health and donor options. There is no single rule that all people respond to G-CSF or that transplant is needed only after leukemia develops.
Kinds of treatment described for severe congenital neutropenia (SCN): watching and regular checks, medicines and a donor stem cell transplant (for some people).
After diagnosis, the options described here
Watching and regular checks
Doctors check the marrow every year for early warning changes that could lead to MDS or leukemia.
Medicines
G-CSF, often given by injection, encourages the marrow to make neutrophils.
Donor stem cell transplant, For some people
A transplant may be considered if G-CSF does not work well, serious infections continue or worrying marrow changes appear.
These are the kinds of treatment this page describes, not a plan. Which ones fit, in what order and whether they are combined differs from person to person.
When transplant specialists are usually consulted
A review by EBMT's inborn errors experts, based on a large European study, says a transplant should be considered when infections stay severe or G-CSF does not work. It should also be considered when more than 8 micrograms per kilogram a day is needed to keep the neutrophil count above 500 per microliter. Results were better when the transplant happened before age 10 and before MDS or leukemia developed.
Read the guidanceDaily life and the donor’s role
Living with the condition
Ongoing care may include injections, blood tests, dental visits and periodic marrow examinations. These demands can affect school, work and travel, even when treatment is controlling infections.
Before transplantation, the team discusses conditioningTreatment that prepares a patient for a stem cell transplant. It can include chemotherapy, radiation or antibody medicines. It makes room in the marrow for the new cells, helps prevent rejection and can kill cancer cells., fertility effects, graft failureWhen donor stem cells never start making enough blood cells after a transplant, or start and then stop. Blood counts stay low or fall. It has many possible causes. An immune attack on the new cells (graft rejection) is one., graft-versus-host diseaseA complication of a donor transplant. The donated cells see the patient's healthy tissues as foreign and attack them, especially the skin, liver and gut. It can start soon after transplant or much later and can be life-threatening. and infection risk. Any features of the genetic condition outside the blood system may need continued care afterward.
The donor’s role
A suitable unrelated donor can provide an established transplant route when a matched relative is unavailable. Relatives are assessed for the familial genetic condition as well as their HLA matchMarkers on most cells that make up a person's tissue type. Doctors test a patient's and donor's HLA to see how well they match. The more markers they share, the better the chance the body accepts the donor's cells..
Whether a donor is needed depends on how the disease behaves over time. Many people do well with growth-factor treatment and regular checkups. A diagnosis or one low count does not by itself mean a donor search is needed.
Looking ahead
Looking ahead
Outlook for severe congenital neutropenia
G-CSF, a medicine that boosts neutrophils, lowers the risk of dying from severe infection. European experts say long-term G-CSF has lengthened life expectancy. Two risks remain: severe infection (sepsis) and MDS or acute myeloidHaving to do with the bone marrow, or with certain blood-forming cells made there. Also called myelogenous. Acute myeloid leukemia (AML) is a fast-growing cancer that starts in these cells. leukemia. In an international registry, both risks were highest in people who needed high G-CSF doses and still had lower counts. Over 10 years, 40% of that group developed MDS or leukemia. Among people who responded well to lower doses, 11% did.
The gene involved also helps doctors judge the risk of MDS or leukemia. When a donor transplantComing from another person. In an allogeneic, or donor, transplant, the stem cells come from a relative or an unrelated volunteer whose cells are a close enough match to the patient's. is needed, results in a European study were better before age 10 and with a matched related or unrelated donor. Many people get good infection control from G-CSF.
About these numbers. Each one says which group of people it comes from, and the place and years where the source gives them. It describes what happened across that group, not what will happen to any one person. And a figure measured among people who had a transplant is not the same as the number of people who need one.
- 22%Developed MDS or leukemia within 15 years on G-CSF
374 people with severe congenital neutropenia on long-term G-CSF, Severe Chronic Neutropenia International Registry (updated analysis published 2010)
Read the source: Developed MDS or leukemia within 15 years on G-CSF - 82%Alive 3 years after a donor transplant
136 people with severe congenital neutropenia transplanted 1990–2012 at European and Middle Eastern centers, EBMT registry (published 2015)
Read the source: Alive 3 years after a donor transplant
These figures come from registries of people treated years ago. They describe groups, not any one child's future. The transplant figure describes only people who had a transplant.
Common questions
Is severe congenital neutropenia inherited?
Yes, it is genetic, but the pattern depends on the gene. About half of cases come from changes in the ELANE gene, which follow a dominant pattern: one changed copy is enough. About 10% come from HAX1 changes, which are recessive: a child needs two changed copies, one from each parent. Rare forms are X-linked. In about a third of people, the cause is not known. Most children have no known family history of it. Genetic counseling can explain what a result means for the family.
Can severe congenital neutropenia turn into leukemia?
It can. About 20% of people with severe congenital neutropenia develop myelodysplastic syndrome (MDS) or leukemia, often in the teen years. In an international registry of people on long-term G-CSF, 21% had developed MDS or leukemia after 10 years. Risk was highest in people who needed high G-CSF doses. A later update found the yearly risk leveled off at about 2.3% after 10 years. This is why doctors check the marrow every year for early warning changes.
What is the life expectancy with severe congenital neutropenia?
There is no single number. European experts say long-term G-CSF has lengthened life expectancy for people with this condition. The main remaining risks are severe infection and MDS or leukemia. In one international registry, about 8% of people on G-CSF died of sepsis within 10 years. The risk was lower in people who responded well to G-CSF. Outlook depends on the gene involved, response to G-CSF, marrow findings and, if needed, transplant.
Does everyone with severe congenital neutropenia need a bone marrow transplant?
No. Many people get good infection control from G-CSF, along with antibiotics when needed and dental care. European transplant experts suggest considering a donor transplant when infections stay severe or G-CSF does not work. It is also considered when high doses are needed. In a European registry, results were better in children under 10 and with matched related or unrelated donors. The outlook section on this page gives survival after transplant.
Can a brother or sister be the stem cell donor?
Yes, if they are a good tissue (HLA) match and do not have the condition. European guidelines say relatives who could donate should always have genetic testing first. This matters because the condition can look very different from one person to the next. If no related donor fits, a matched unrelated volunteer from a registry can be the donor. In a European study, transplants from matched related or unrelated donors had better survival than those from other donor types.
Is severe congenital neutropenia the same as cyclic neutropenia?
No, though they can be linked. Both can be caused by changes in the ELANE gene. In severe congenital neutropenia, neutrophil counts stay very low, and neutrophils often stop maturing in the marrow. In cyclic neutropenia, counts drop and recover in a repeating pattern. For most people, low counts come back about every 21 days and last 3 to 5 days. When their counts are normal, people with cyclic neutropenia do not have a higher risk of infection.
Why the details matter
Changes in the ELANE gene can cause either severe congenital neutropenia or cyclic neutropenia, and the two behave differently. A good first response to G-CSF does not remove all future risk to the marrow.
For your next appointment
Severe congenital neutropenia (SCN)
From the Jada Bascom Foundation disease library, jadabascomfoundation.org. Printed .
Questions to bring to your care team
- Which gene change does my child have, and what does it mean for G-CSF response and leukemia risk?
- What G-CSF dose does my child need to keep neutrophils up, and at what point would you talk with a transplant center?
- What did this year's marrow, chromosome and gene tests show, including any CSF3R or RUNX1 changes?
- Should brothers and sisters be tested for the family gene change, and for an HLA match?
- What is the exact name of the diagnosis or subtype, and what does it mean for treatment?
- What is the goal of each treatment you are suggesting?
- What would make a transplant worth considering later on?
- Are there clinical trials that might fit?
- Where can our family find support during treatment?
A one-page list to take to the next appointment, with room for notes.
Supporting someone with a diagnosisSupport for patients and families
These independent organizations offer information and support. JBF is not affiliated with them.
- National Neutropenia Network Nonprofit with trained volunteer peer supporters and education for people with severe chronic neutropenia, including congenital forms, and their families.United States
- Immune Deficiency Foundation US nonprofit for people with primary immunodeficiencies, including severe congenital neutropenia, offering education, peer support and answers through AskIDF.United States
Sources and further reading
- ELANE-Related Neutropenia
GeneReviews, University of Washington / NCBI Bookshelf, Accessed 2026-09-05 - Severe congenital neutropenia
MedlinePlus Genetics, US National Library of Medicine, Accessed 2026-09-05 - Fanconi Anemia and Other Hereditary Bone Marrow Failure Syndromes
EBMT Handbook, 2024-04-11 - The European Guidelines on Diagnosis and Management of Neutropenia in Adults and Children
HemaSphere (Fioredda F, et al.; European Hematology Association and EuNet-INNOCHRON), 2023; accessed 2026-09-26 - The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy (abstract)
Blood (Rosenberg PS, et al.), 2006; accessed 2026-09-26 - Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy
British Journal of Haematology (Rosenberg PS, et al.), 2010; accessed 2026-09-26 - Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation (abstract)
Blood (Fioredda F, et al.), 2015; accessed 2026-09-26 - Cyclic neutropenia
MedlinePlus Genetics, U.S. National Library of Medicine, Updated 2018-10-01; accessed 2026-09-26 - The Evidence for Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Neutrophil Disorders: A Comprehensive Review by the Inborn Errors Working Party Group of the EBMT
Frontiers in Pediatrics (Bakhtiar S, Shadur B, Stepensky P; EBMT Inborn Errors Working Party), 2019; accessed 2026-09-26
This information explains a condition and its treatments. It cannot diagnose an illness or recommend treatment for an individual. Your care team can explain how the evidence applies to you. Written and source-checked by the Jada Bascom Foundation. Each page lists the published sources it draws on.
Ways to help
Help another family understand.
Most people with severe congenital neutropenia (SCN) are treated without a registry donor. A clear explanation can help the next family who hears this diagnosis, and many people with other blood cancers and blood disorders need a donor who is a stranger.
Learn and share
Most families meet these words for the first time at a diagnosis. Passing on a plain, sourced explanation is a real help.
Support this work
Gifts to the Jada Bascom Foundation support donor-awareness education like this page, community outreach, drive planning and referrals to official registries.
Join the registry
JBF points you to the official registry that serves your country. It explains who can join and what donation involves.
More in the library
Keep learning
Part of Bone marrow failure, a guide to how the subtypes fit together.
