|Signs and Symptoms||Approximate number of patients (when available)|
|Antineutrophil antibody positivity||-|
|Antinuclear antibody positivity||-|
|Antiphospholipid antibody positivity||-|
|Autoimmune hemolytic anemia||-|
|Autosomal dominant inheritance||-|
|Chronic noninfectious lymphadenopathy||-|
|Coombs-positive hemolytic anemia||-|
|Decreased lymphocyte apoptosis||-|
|Increased IgA level||-|
|Increased IgG level||-|
|Increased IgM level||-|
|Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors||-|
|Increased number of peripheral CD3+ T cells||-|
|Increased proportion of HLA DR+ and CD57+ T cells||-|
|Iron deficiency anemia||-|
|Platelet antibody positive||-|
|Reduced delayed hypersensitivity||-|
|Rheumatoid factor positive||-|
|Smooth muscle antibody positivity||-|
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.
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.
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.
Autoinflammation 2013: The Seventh International Congress of FMF and Autoinflammatory Diseases Wednesday, May 22, 2013 -
Sunday, May 26, 2013
Location: Lausanne, Switzerland
Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.
Contact: Daniel Kastner, M.D., Ph.D., firstname.lastname@example.org
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
International Meeting on Genetic Syndromes of the Ras/MAPK Pathway
Friday, July 29, 2011 -
Sunday, July 31, 2011
Location: The Westin O’Hare, Chicago, IL
Description: The ultimate goals of this meeting are to develop better medical management and establish novel therapies. The overall goal is to provide a forum for researchers, clinicians, physician-scientists, trainees, and affected persons/families to share and discuss basic science and clinical issues in order to set forth a solid framework for future research, translational applications directed toward therapy, and best practices for individuals with Ras/MAPK pathway syndromes.
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
Workshop on Stem Cell Therapy for Rheumatic and Autoimmune Disease Friday, September 11, 1998
Location: NIH Campus, Bethesda, MD
Contact: Ms. Joanne Odenkirchen(301) 594-5055
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases
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How can I find a physician with expertise in ALPS to see my adult son? See answer