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Living with Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

A rare inherited immune condition with low neutrophils, a type of white blood cell, leading to repeated bacterial infections.

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Understanding Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare condition in which the blood has very few neutrophils, white blood cells that fight bacteria.

People have repeated bacterial infections. Neutrophil counts are very low. Bone marrow cells mature fully, and the condition does not respond to the medicine G-CSF. Onset is listed as the newborn period and infancy.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Low neutrophil count in the blood
  • Repeated infections

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include allergy and immune system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in CSF3R are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    Immune Deficiency Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
Expert care
Expert lists: Immune Deficiency Foundation
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Immune Deficiency Foundation
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Can genetic testing for the CSF3R gene confirm the diagnosis?
How often should my blood counts be checked?
What signs of infection should I call the doctor about right away?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive
GenesCSF3R

It is caused by changes in the CSF3R gene that stop it from working. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.

Genetic

Also known as: neutropenia, severe congenital, 7, autosomal recessive

Patient organizations

Broader rare-disease groups

Source: NIH GARD · Autosomal recessive severe congenital neutropenia due to CSF3R deficiencyGARD ID 17698 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Autosomal recessive severe congenital neutropenia due to CSF3R deficiency.

Explore the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency blog
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