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 temperature regulation||90%|
|Chronic obstructive pulmonary disease||90%|
|Recurrent respiratory infections||90%|
|Abnormality of coagulation||50%|
|Inflammation of the large intestine||50%|
|Abnormality of neutrophils||7.5%|
|Abnormality of the menstrual cycle||7.5%|
|Aplasia/Hypoplasia of the thymus||7.5%|
|Inflammatory abnormality of the eye||7.5%|
|Sudden cardiac death||7.5%|
|Abnormal delayed hypersensitivity skin test||-|
|Absent microvilli on the surface of peripheral blood lymphocytes||-|
|Decreased mean platelet volume||-|
|Increased IgA level||-|
|Increased IgE level||-|
|Iron deficiency anemia||-|
|Large vessel vasculitis||-|
|Prolonged bleeding time||-|
|Recurrent lower respiratory tract infections||-|
|Recurrent upper respiratory tract infections||-|
|Reduced lymphocyte surface expression of CD43||-|
|Small vessel vasculitis||-|
|Specific anti-polysaccharide antibody deficiency||-|
|X-linked recessive inheritance||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
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
The First Wiskott-Aldrich Syndrome Families and Investigators Conference Friday, July 30, 2010 -
Sunday, August 1, 2010
Location: Hilton Chicago Indian Lakes Resort and Conference Center, Bloomingdale, Illinois
Description: Conference goals were to (1) gather families affected by Wiskott-Aldrich syndrome (WAS) together in a nonmedical setting to share experiences with each other and present concerns to experts in immunology, BMT, and genetics; (2) review research achievements in WAS diagnosis, treatment (including BMT approaches and gene therapy), post-transplant outcomes (reconstitution and side effects of chemotherapy), and management of medical complications and family psychological issues; (3) develop and prioritize outstanding questions for future research; and (4) coordinate with planned efforts for a national WAS registry.
Contact: Dr. Fabio Candotti, firstname.lastname@example.org@nhgri.nih.gov
Co-funding Institute(s): National Human Genome Research Institute, 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
I am a carrier of WAS. I have 3 children - 2 boys and a girl. My oldest son a very mild form of it. Mainly just has the small platelets. My youngest son has a more severe form. He had a little bit of an immune deficiency. My question is that if my daughter is a carrier, what are the chances of her passing it to her children if she has boys? I was told that it will skip a generation? Is that true? And also if we decide to have another child and it is a boy, I know there's a 50/50 chance he would get it, but would it be any worse than in my other 2 sons? See answer
My husband's grandmother had three children. Two of her sons with Wiskott Aldrich syndrome (WAS) died at ages 7 and 3. My husband's father did not have it, and he had 3 boys. My husband and I are expecting. Is there a chance our child will have WAS? See answer
What is Wiskott Aldrich syndrome and what does it do to the body? See answer