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T-B+ severe combined immunodeficiency due to gamma chain deficiency
Disease definition
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
ORPHA:276
Classification level: DisorderSummary
Epidemiology
It accounts for approximately 50% of SCID cases and is the most common form of SCID in Europe. The annual incidence varies among the populations but it is estimated at approximately 1/200,000 births. The disease occurs in males.
Clinical description
SCID-X1 manifests during the first months of life with severe and often life threatening viral, bacterial or fungal infections (e.g. Pneumocystis jiroveci pneumonitis, disseminated BCG infection if previously vaccinated), and failure to thrive. Chronic diarrhea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Materno-fetal transfusion-associated graft versus host disease is also associated with the disease. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinemia, and normal or increased B cell count.
Etiology
SCID-X1 results from a defect in the IL2RG gene encoding the common gamma chain.
Genetic counseling
Transmission is X-linked.
A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Polski (2013, pdf)
Detailed information
General public
- Article for general public
- Arabic (2007, pdf) - IPOPI
- English (2013) - Socialstyrelsen
- Svenska (2020) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information