Orpha Number: 79124
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|
|Abnormal serum interleukin level||0030782|
|30%-79% of people have these symptoms|
|Decreased proportion of memory B
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy[ more ]
Enlarged liver and spleen
|Recurrent enteroviral infections||0002743|
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Low T cell count
Reduced number of T cells[ more ]
|5%-29% of people have these symptoms|
Low number of red blood cells or hemoglobin
Accumulation of fluid in the abdomen
Grand mal seizures
|Chronic hepatic failure||
Chronic liver failure
|Chronic mucocutaneous candidiasis||0002728|
|Elevated hepatic transaminase||
High liver enzymes
Weakness of one side of body
Yellowing of the skin[ more ]
Low blood cell count
Partial paralysis of legs
|Recurrent abscess formation||0002722|
|Recurrent aspiration pneumonia||0002100|
|Recurrent ear infections||
Frequent ear infections
Low platelet count
|1%-4% of people have these symptoms|
|Abnormal natural killer cell count||0040089|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the liver||
Liver abnormality[ more ]
|Decreased circulating IgG level||0004315|
Decreased immune function
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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.
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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