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Disease Profile
X-linked severe combined immunodeficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
D81.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
X-linked SCID; Severe combined immunodeficiency, X-linked; SCID, X-linked;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Newborn Screening
Summary
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Decreased |
0031381 | |
Decreased proportion of CD4-positive helper T |
0005407 | |
Decreased proportion of naive T cells | 0031397 | |
Pneumonia | 0002090 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
Reduced natural killer cell count | 0040218 | |
30%-79% of people have these symptoms | ||
Abnormally low T cell receptor excision circle level | 0031545 | |
Cough |
Coughing
|
0012735 |
Decreased circulating IgA level | 0002720 | |
Decreased circulating IgG level | 0004315 | |
Decreased proportion of CD3-positive T cells | 0045080 | |
Diarrhea |
Watery stool
|
0002014 |
Recurrent opportunistic infections | 0005390 | |
Sepsis |
Infection in blood stream
|
0100806 |
Skin rash | 0000988 | |
5%-29% of people have these symptoms | ||
Absent tonsils | 0030813 | |
Chronic oral candidiasis |
Chronic oral thrush
|
0009098 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
0002732 | ||
Recurrent bacterial skin infections | 0005406 | |
Recurrent Haemophilus influenzae infections | 0005376 | |
Recurrent herpes |
Susceptibility to herpesvirus
|
0005353 |
Severe recurrent varicella | 0005428 | |
1%-4% of people have these symptoms | ||
Hepatomegaly |
Enlarged liver
|
0002240 |
Increased circulating IgG level | 0003237 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Lymphoma |
Cancer of lymphatic system
|
0002665 |
Lymphoproliferative disorder | 0005523 | |
Neonatal onset | 0003623 | |
Recurrent pneumonia | 0006532 | |
Percent of people who have these symptoms is not available through HPO | ||
Agammaglobulinemia | 0004432 | |
Chronic diarrhea | 0002028 | |
Decreased circulating IgE | 0005479 | |
Decreased circulating total IgM | 0002850 | |
Hypoplasia of the thymus |
Small thymus
|
0000778 |
Impaired lymphocyte |
0003347 | |
Recurrent bacterial |
0007274 | |
Recurrent fungal infections | 0002841 | |
Reduced natural killer cell activity | 0012178 | |
Severe combined |
0004430 | |
T lymphocytopenia |
Low T cell count
Reduced number of T cells
[ more ] |
0005403 |
0001419 |
Diagnosis
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.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Newborn Screening
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive
newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics. - Baby's First Test is the nation's newborn
screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Canadian Immunodeficiencies Patient Organization (CIPO)
25 La Grave St
Winnepeg, MB
R3V 1J1 Canada
Telephone: 877-262-2476 (toll-free)
Fax: 866-942-7651 (toll-free)
E-mail: https://www.cipo.ca/#contact
Website: https://cipo.ca -
Immune Deficiencies Foundation Australia
PO Box 969
Penrith NSW 2751
Australia
Telephone: 800-100-198
E-mail: info@idfa.org.au
Website: https://www.idfa.org.au/ -
International Patient Organization for Primary Immunodeficiencies (IPOPI)
Rock Bottom, Trerieve
Downderry
PL11 3LY
United Kingdom
Telephone: 44-01503-250-668/961
E-mail: Info@ipopi.org
Website: https://ipopi.org
Organizations Providing General Support
-
Primary Immune Deficiency UK (PID UK)
PO Box 6970
Basingstoke, RG24 4XL United Kingdom
Toll-free: 0800 987 8986
E-mail: hello@piduk.org
Website: https://www.piduk.org/
Learn more
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.
Where to Start
- The American Society of Gene & Cell Therapy provides information on the treatment of immunodeficiency diseases.
- Genetics Home Reference (GHR) contains information on X-linked severe combined immunodeficiency. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked severe combined immunodeficiency. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Simons, E. Gene Therapy of X-Linked Severe Combined Immunodeficiency by Use of a Pseudotyped Gammaretroviral Vector. Pediatrics 2006; 118: S48-S49.
References
- X-linked severe combined immunodeficiency. Genetics Home Reference. 2009; https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency. Accessed 8/8/2011.
- Eric Allenspach, David J Rawlings, and Andrew M Scharenberg. X-Linked Severe Combined Immunodeficiency. GeneReviews. January 24, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1410/. Accessed 5/28/2014.
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