Severe combined immunodeficiency

Genetic and Rare Diseases Information Center (GARD)

Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency, alymphocytotic type
Bubble boy disease
SCID1
Agammaglobulinemia, Swiss type
SCID

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Severe combined immunodeficiency
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For more information about Severe combined immunodeficiency click on the boxes below:

More Detailed Information	NLM Gateway	Medical Products	Services	Scientific Conferences	Support Groups	Clinical Trials & Research

General \| Management Guidelines \| Selected Full-Text Journal Articles \| Newborn Screening
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 Genetics Home Reference (GHR) contains a condition summary on Severe combined immunodeficiency. Click on the link to go to GHR and review this summary. 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. 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. 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. 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. 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 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 Kaufman, et al. Cerebral Lymphoma in an Adenosine Deaminase-Deficient Patient With Severe Combined Immunodeficiency Receiving Polyethylene Glycol-Conjugated Adenosine Deaminase. Pediatrics 2005;116:e876-e879. Newborn Screening Bonilla, Francisco A. Development of Population-Based Newborn Screening for Severe Combined Immunodeficiency. Pediatrics 2006;118:S47.

General | Management Guidelines | Selected Full-Text Journal Articles | Newborn Screening

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
- Genetics Home Reference (GHR) contains a condition summary on Severe combined immunodeficiency. Click on the link to go to GHR and review this summary.
- 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.
- 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.
- 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.
- 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.
- 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
- 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
- Kaufman, et al. Cerebral Lymphoma in an Adenosine Deaminase-Deficient Patient With Severe Combined Immunodeficiency Receiving Polyethylene Glycol-Conjugated Adenosine Deaminase. Pediatrics 2005;116:e876-e879.
Newborn Screening
- Bonilla, Francisco A. Development of Population-Based Newborn Screening for Severe Combined Immunodeficiency. Pediatrics 2006;118:S47.

NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

- NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

Medical Products (Found 1 resource)

U.S. Food and Drug Administration

The Office of Orphan Products Development (OOPD)

The medications listed in the table below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search all FDA approved drugs, visit Drugs@FDA You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name	Trade Name (Manufacturer Name)	Indication	Resources
Pegademase bovine	Adagen® (Enzon, Inc.)	For enzyme replacement therapy for ADA deficiency in patients with severe combined immunodeficiency.	Daily Med

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
- 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

Past Conferences
- Primary Immunodeficiency Disease Consortium Conference, June 11, 2009
  Description: The CIS Primary Immune Deficiency Consortium Conference provided 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.
- 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 was 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 focused on challenging aspects of SCID/CID not previously addressed. Other objectives were 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.
- Workshop on Registries for Primary Immunodeficiency Diseases, November 19, 1996
  Location: NIH Campus, Bethesda, MD

Umbrella Organizations \| Live Chat/E-mail Lists \| Parent Matching Organizations
Support Groups (Found 5 resources) Groups providing a wide range of services, supportive resources, and information Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Live Chat/E-mail Lists 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. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more. Parent Matching Organizations Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/

Umbrella Organizations | Live Chat/E-mail Lists | Parent Matching Organizations

Support Groups (Found 5 resources)
Groups providing a wide range of services, supportive resources, and information

Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Live Chat/E-mail Lists
- 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.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Parent Matching Organizations
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/


Clinical Trials & Research (Found 1 resource) Resources where you may find research studies and clinical trials 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.

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