Living with Hyper-IgM syndrome type 1
An immune condition, almost only in males, in which the body has low levels of key antibodies and gets frequent infections.
Understanding Hyper-IgM syndrome type 1
People have abnormal levels of antibodies. Some have high or normal IgM, but low IgG, IgA, and IgE, which makes it hard to fight infections. Frequent infections start in infancy and early childhood, such as pneumonia, sinus infections, and ear infections. Chronic diarrhea and slow weight gain can occur. Some people get autoimmune disorders, liver disease, or low neutrophils. Severity varies, even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated chest infections
- Pneumocystis pneumonia
- Diarrhea
- Faltering weight gain
- Low neutrophil count
- Mouth ulcers
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 CD40LG 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 CD40LG gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: higm1; higmx-1; hyper igm syndromes; hyper-igm immunodeficiency syndrome, type 1; hyper-igm syndrome due to cd40 ligand deficiency; hyper-igm syndrome due to cd40l deficiency
Patient organizations
- Hyper IgM FoundationHyper-IgM syndrome type 1 · United States
- Jeffrey Modell FoundationHyper-IgM syndrome type 1 · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyper-IgM syndrome type 1.
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