The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Decreased antibody level in blood||90%|
|Abnormality of eosinophils||50%|
|Abnormality of the fingernails||50%|
|Abnormality of the nose||50%|
|Deeply set eye||50%|
|Delayed eruption of teeth||50%|
|Reduced bone mineral density||50%|
|Abnormal blistering of the skin||7.5%|
|Abnormality of temperature regulation||7.5%|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Coarse facial features||-|
|Increased IgE level||-|
|Persistence of primary teeth||-|
|Recurrent bacterial infections||-|
|Recurrent fungal infections||-|
|Recurrent sinopulmonary infections||-|
|Recurrent Staphylococcus aureus infections||-|
|Recurrent viral infections||-|
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
Autoinflammation 2013: The Seventh International Congress of FMF and Autoinflammatory Diseases Wednesday, May 22, 2013 -
Sunday, May 26, 2013
Location: Lausanne, Switzerland
Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.
Contact: Daniel Kastner, M.D., Ph.D., firstname.lastname@example.org
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
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Does the eczema associated with Job syndrome respond to dietary restriction? In particular, is the eczema due to food allergies or will these kids have eczema unrelated to food? See answer
I was diagnosed with Job syndrome when I was little and I'm now twenty years old and searching for answers about my condition. Where can I find out what's going to come in my future as far as my health and physically? See answer