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Disease Profile

X-linked severe combined immunodeficiency

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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

X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the immune system.[1] Signs and symptoms often become apparent in early infancy and include failure to thrive; oral/diaper candidiasis (yeast infection); absent tonsils and lymph nodes; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. X-SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner; it only affects males. The condition is typically fatal in the first two years of life unless treated with a bone marrow transplant or gene therapy.[1][2]

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 lymphocyte proliferation in response to mitogen
0031381
Decreased proportion of CD4-positive helper T cells
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
Lymph node hypoplasia
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
Jaundice
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 transformation with phytohemagglutinin
0003347
Recurrent bacterial meningitis
0007274
Recurrent fungal infections
0002841
Reduced natural killer cell activity
0012178
Severe combined immunodeficiency
0004430
T lymphocytopenia
Low T cell count
Reduced number of T cells

[ more ]

0005403
X-linked recessive inheritance
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

        Organizations Providing General Support

          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

                References

                1. X-linked severe combined immunodeficiency. Genetics Home Reference. 2009; https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency. Accessed 8/8/2011.
                2. 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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