Living with Hyper-IgE recurrent infection syndrome 1, autosomal dominant
A genetic immune condition, formerly called Job syndrome, with high IgE levels, repeated infections, eczema, and sometimes bone and tooth differences.
Understanding Hyper-IgE recurrent infection syndrome 1, autosomal dominant
People have very high levels of an immune protein called immunoglobulin E (IgE) in the blood. Signs may include repeated infections such as pneumonia and skin infections, eczema, and sometimes bone and tooth differences. Skin problems can include rashes, blisters, pus pockets (abscesses), open sores, and scaling. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections
- Eczema
- Chronic ear infections
- Cleft palate
- Delayed eruption of teeth
- Loose joints (joint hypermobility)
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in STAT3 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); Skin, hair, and nail specialists (dermatologists)
- 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 COPD 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
Some cases are caused by changes in the STAT3 gene. In other cases the cause is unknown. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: ad hyperimmunoglobulin e syndrome; ad-hies; autosomal dominant hies; autosomal dominant hyper ige syndrome; autosomal dominant hyper-ige syndrome; autosomal dominant hyper-ige syndrome due to stat3 deficiency
Patient organizations
- COPD FoundationHyper-IgE recurrent infection syndrome 1, autosomal dominant · Jeffrey Modell Foundation
- Job Research FoundationHyper-IgE recurrent infection syndrome 1, autosomal dominant · Immune Deficiency Foundation
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyper-IgE recurrent infection syndrome 1, autosomal dominant.
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