Living with Cernunnos-XLF deficiency
A rare immune condition with a small head, slow growth, and low levels of infection-fighting white blood cells.
Understanding Cernunnos-XLF deficiency
T and B cells are white blood cells that fight infection. It begins in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Slow growth
- Low lymphocyte count
- Low B cell count
- Anemia
- Bird-like facial appearance
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, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in NHEJ1 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); Cancer specialists (oncologists); 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
Changes in the NHEJ1 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: cernunnos deficiency; cernunnos xlfd; combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome; combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome; imd124; immunodeficiency 124, severe combined
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 Cernunnos-XLF deficiency.
Explore research for Cernunnos-XLF deficiency
Explore actively recruiting Cernunnos-XLF deficiency studies with HealthSpark.
Find actively recruiting studies for Cernunnos-XLF deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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