Living with Hyper-IgM syndrome type 3
A rare immune condition in which young B cells can't mature, raising the chance of bacterial and opportunistic infections.
Understanding Hyper-IgM syndrome type 3
Immature B cells do not get the signal they need to mature into fully working B cells. This raises the chance of bacterial infections and opportunistic infections, which happen more in people with weakened immune systems.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Bacterial infections
- Opportunistic infections
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 CD40 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
Hyper IgM Foundation and 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: Hyper IgM Foundation, 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 Hyper IgM Foundation and other patient organizations
- 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 CD40 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive combined immunodeficiency due to cd40 mutation; cd40 hyper-igm syndrome; higm3; higm3 - hyperimmunoglobulin m syndrome type 3; hyper-igm immunodeficiency syndrome, type 3; hyper-igm syndrome caused by mutation in cd40
Patient organizations
- Hyper IgM FoundationHyper-IgM syndrome type 3 · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyper-IgM syndrome type 3.
Explore research for Hyper-IgM syndrome type 3
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- 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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