Severe combined immunodeficiency
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For more information about Severe combined immunodeficiency click on the boxes below:
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- More Detailed Information (Found: 9 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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Genetics Home Reference (GHR) contains a condition summary on Severe combined immunodeficiency. Click on the link to go to GHR and review this summary.
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The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Severe combined immunodeficiency. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Severe combined immunodeficiency. Click on the link to view a sample search on this topic.
- Management Guidelines
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Selected Full-Text Journal Articles
- Newborn Screening
- Support Groups (Found: 4 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Live Chat
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 1 Resource)
Resources where you may find research studies and clinical trials
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ClinicalTrials.gov lists trials that are studying or have studied Severe combined immunodeficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Services (Found: 1 Resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
- Scientific Conferences (Found: 3 Resources)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health
- Upcoming Conferences
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Primary Immunodeficiency Disease Consortium Conference, June 11, 2009
Description: The CIS Primary Immune Deficiency Consortium Conference will provide new investigators in this field the continued opportunity to enhance career development by learning from leaders in the field of primary immunodeficiency and other young investigators from institutions across the Americas and Europe.
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Improving Cellular Therapy for Primary Immune Deficiency Diseases: Recognition, Diagnosis and Management, May 21, 2009 - May 22, 2009
Location: EPN, 6130 Executive Blvd., Rockville, MD
Description: The first objective of this conference is to facilitate continued discussion and team building of pediatric hematopoietic cell transplant physicians and pediatric immunologists to work together to develop a North American consortium for treatment of children with PID. The workshop of May 2008 set in motion an important collaborative effort. This new workshop will focus on challenging aspects of SCID/CID not previously addressed. Other objectives are to (2) conduct a survey of current practices in the workup and management of children with SCID/CID in preparation for HCT, (3) identify questions for future clinical research by utilizing the results of the survey, and (4) develop best current practice parameters (or guidelines) in this area. The document will be published in a respected peer-reviewed journal.
- Past Conferences
- NLM Gateway
A tool to search across multiple resources offered on the National Library of Medicine's Website
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.