Orpha Number: 391487
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|
|Chronic mucocutaneous candidiasis||0002728|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Functional abnormality of the bladder||0000009|
|Recurrent upper respiratory tract infections||
Decreased body height[ more ]
|30%-79% of people have these symptoms|
Low B cell count
Permanent enlargement of the airways of the lungs
|Carotid artery dilatation||0012163|
Delayed pubertal growth
Delayed pubertal development[ more ]
|Dilatation of the cerebral artery||0004944|
Enlarged liver and spleen
Unregulated immune response
Decreased immune function
Susceptibility to herpesvirus
|Renal artery stenosis||
Narrowing of kidney artery
Thyroid gland inflammation
Type 1 diabetes
Type I diabetes[ more ]
|5%-29% of people have these symptoms|
|Congestive heart failure||
Heart failure[ more ]
|Medial calcification of large arteries||0004966|
|Neutropenia in presence of anti-neutropil antibodies||0001904|
|Patent foramen ovale||0001655|
|Pulmonary arterial hypertension||
Increased blood pressure in blood vessels of lungs
|Recurrent Aspergillus infections||0002724|
|Percent of people who have these symptoms is not available through HPO|
Decreased blood lymphocyte number
Low lymphocyte number[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
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.
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.
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