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|
|Generalized abnormality of skin||
Generalised abnormality of skin
|Increased IgE level||0003212|
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
|30%-79% of people have these symptoms|
|Abnormality of the hair||
|Chronic otitis media||0000389|
|Deeply set eye||
Deep set eye
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Poor fingernail formation
High blood eosinophil count
Red and swollen gums
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures
|Wide nasal bridge||
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
|5%-29% of people have these symptoms|
Bacterial infection of skin
|Percent of people who have these symptoms is not available through HPO|
|Autosomal dominant inheritance||0000006|
|Coarse facial features||
Coarse facial appearance
Widely spaced eyes
Onset in first year of life
Onset in infancy
Increased mobility of joints
|Persistence of primary teeth||
Delayed loss of baby teeth
|Recurrent fungal infections||0002841|
|Recurrent sinopulmonary infections||0005425|
|Recurrent Staphylococcus aureus infections||0002726|
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
The Jak/Stat Pathway: 20 Years from Discovery to Drugs
Thursday, September 22, 2011 -
Saturday, September 24, 2011
Location: NIH Natcher Center, Bethesda, MD
Description: As a scientific conference, the primary goal is the dissemination of recent data and developments in the field to intersted researchers in the field. The conference includes a scientific program and reception, which will help to foster collaboration and networking. Participants should achieve a better understanding of the state of the art research in this exciting and clinically relevant field.
Contact: Megan Laycock,(301) 594-7527Megan.email@example.com
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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