Living with Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
A rare inherited immune condition with very low neutrophils and repeated bacterial infections starting early in life.
Understanding Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
People have repeated, severe bacterial infections starting early. Neutrophils stop maturing in the bone marrow. Other features can include a triangular face, short height, poor weight gain, an underactive thyroid, developmental delay, digestive enzyme problems from the pancreas, a narrowing of the aorta, and bone and urinary tract differences. Onset is listed as the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very low neutrophil count in the blood
- Neutrophils that stop maturing in the bone marrow
- Repeated bacterial infections
- Repeated ear infections
- Short stature
- Poor weight gain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in JAGN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect 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
Quick facts
It is caused by changes in the JAGN1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: severe congenital neutropenia 6, autosomal recessive
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency.
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