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|
|Abnormality of neutrophils||0001874|
|Chronic obstructive pulmonary disease||0006510|
Photosensitive skin rashes
Sensitivity to sunlight
Sun sensitivity[ more ]
Middle ear infection
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|5%-29% of people have these symptoms|
Red and swollen gums[ more ]
|Inflammatory abnormality of the eye||0100533|
|Percent of people who have these symptoms is not available through HPO|
|Absence of bactericidal oxidative 'respiratory burst' in phagocytes||0002723|
Bacterial infection of skin
|Decreased activity of NADPH oxidase||0003206|
|Deficiency or absence of cytochrome b(-245)||0003514|
|Discoid lupus rash||0007417|
Inflammation of the lymph nodes
|Negative nitroblue tetrazolium reduction test||0003203|
Eczema around the mouth
|Recurrent aphthous stomatitis||0011107|
|Recurrent Aspergillus infections||0002724|
|Recurrent bacterial skin infections||0005406|
|Recurrent Burkholderia cepacia infections||0002842|
|Recurrent E. coli infections||0002740|
|Recurrent Klebsiella infections||0002742|
|Recurrent Serratia marcescens infections||0002741|
|Recurrent Staphylococcus aureus infections||0002726|
Increased spleen size
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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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Primary Immune Deficiency Treatment Consortium (PIDTC) Scientific Workshop
Thursday, April 7, 2011 -
Saturday, April 9, 2011
Location: San Francisco, CA
Description: This was a 3-day meeting. Participation at the workshop was by invitation and included representatives from each of the centers participating at PIDTC as well as representatives of CIBMTR, USIDNET, NIAID, ORDR, EBMT, and ESID. This was meant to favor collaboration and promote international collaborative trials in the field of these rare disorders. Special attention was paid to invitation of young investigators at a senior stage in their training or at the beginning of their academic careers. The meeting was open to representatives of the patient advocacy groups that are active in the field of primary immune deficiencies (PIDs) with the intent of promoting communication and collaboration. The results of the meeting will be published in a peer-reviewed journal.
Contact: Nancy Coulter,(301) 496-1886, firstname.lastname@example.org
Co-funding Institute(s): National Institute of Allergy and Infectious Diseases, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
The information I have read said that most infections occur in younger people. I have not had any major problems until now at 56 years of age. Should I be under a doctors care regularly? Am I a candidate for disability? See answer