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)|
|Recurrent respiratory infections||90%|
|Reduced bone mineral density||50%|
|Abnormality of the fibula||7.5%|
|Abnormality of the pancreas||7.5%|
|Hernia of the abdominal wall||7.5%|
|Hypopigmentation of hair||7.5%|
|Abnormality of the thorax||-|
|Autosomal recessive inheritance||-|
|Death in childhood||-|
|Hypoplasia of the thymus||-|
|Severe combined immunodeficiency||-|
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.
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.
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, email@example.com
Co-funding Institute(s): National Institute of Allergy and Infectious Diseases, Office of Rare Diseases Research
Workshop on Registries for Primary Immunodeficiency Diseases Tuesday, November 19, 1996
Location: NIH Campus, Bethesda, MD
Contact: Dr. Howard Dickler(301) 496-7104
Co-funding Institute(s): National Institute of Allergy and Infectious Diseases