This condition also affects other parts of the body, including the bones and teeth. Many people with this condition have skeletal abnormalities such as an unusually large range of joint movement (hyperextensibility), an abnormal curvature of the spine (
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Partial or complete collapse of part or entire lung
|Generalized abnormality of skin||
Generalised abnormality of skin
|Increased IgE level||0003212|
Skin itching[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Open skin sore
|30%-79% of people have these symptoms|
|Abnormality of the hair||
|Chronic otitis media||
Chronic infections of the middle ear
Cleft roof of mouth
|Deeply set eye||
Deep set eye
Sunken eye[ more ]
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
Poor fingernail formation
High blood eosinophil count
Red and swollen gums[ more ]
Joints move beyond expected range of motion
Protruding forehead[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Abnormal curving of the spine
|Wide nasal bridge||
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge[ more ]
|5%-29% of people have these symptoms|
Bacterial infection of skin
Skin infection[ more ]
Wider than typical opening or gap
Cancer of lymphatic system
|Percent of people who have these symptoms is not available through HPO|
|Autosomal dominant inheritance||0000006|
|Coarse facial features||
Coarse facial appearance
Increased palatal height[ more ]
Widely spaced eyes[ more ]
Onset in first year of life
Onset in infancy[ more ]
Increased mobility of joints[ more ]
|Persistence of primary teeth||
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth[ more ]
|Recurrent fungal infections||0002841|
|Recurrent sinopulmonary infections||
Recurrent sinus and lung infections
|Recurrent Staphylococcus aureus infections||0002726|
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose[ more ]
Changes in the STAT3 gene alter the structure and function of the STAT3 protein, impairing its ability to control the activity of other genes. The defective protein disrupts cellular functions such as immune system regulation. The resulting immune system abnormalities make people with AD-HIES highly susceptible to infections. The STAT3 protein is also involved in the formation of
A small percentage (<5%) of individuals who have the clinical symptoms associated with AD-HIES do not have an identifiable mutation in the STAT3 gene. This suggests that there are additional unidentified mutations.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include cystic fibrosis and chronic granulomatous disease (see these terms), as well as severe atopic dermatitis and HIV-infection. A clinically distinct autosomal recessive hyper-IgE syndrome has also been described (AR-HIES; see this term).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Thoughts from the Front Lines of Rare Disease Research
March 4, 2019
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