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)|
|Abnormality of retinal pigmentation||90%|
|Aplasia/Hypoplasia of the corpus callosum||90%|
|Hypopigmentation of hair||90%|
|Recurrent respiratory infections||90%|
|Abnormality of neuronal migration||50%|
|Abnormality of the palate||50%|
|Abnormality of the renal tubule||50%|
|Aplasia/Hypoplasia of the cerebellum||50%|
|Abnormality of the macula||7.5%|
|Cerebral cortical atrophy||7.5%|
|Limitation of joint mobility||7.5%|
|Sensorineural hearing impairment||7.5%|
|Abnormality of the thymus||-|
|Agenesis of corpus callosum||-|
|Autosomal recessive inheritance||-|
|Cerebellar vermis hypoplasia||-|
|Chronic mucocutaneous candidiasis||-|
|Cleft upper lip||-|
|Congestive heart failure||-|
|Decreased number of CD4+ T cells||-|
|Decreased T cell activation||-|
|Failure to thrive||-|
|Hypopigmentation of the fundus||-|
|Immunoglobulin IgG2 deficiency||-|
|Left ventricular hypertrophy||-|
|Recurrent bacterial infections||-|
|Recurrent fungal infections||-|
|Recurrent viral infections||-|
|White matter neuronal heterotopia||-|
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.
New Rare Disease Patient Video Series
July 18, 2016
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