Severe Combined Immunodeficiency: Difference between revisions
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==Description== | ==Description== | ||
Severe Combined Immunodeficiency (SCID) conditions | Severe Combined Immunodeficiency (SCID) is a collective term used for multiple congenital conditions caused by genetic defects, which inhibit the function of various parts of the immune system. Especially T- and B-cell function is impaired, the regular function of the immune response is impeded.<ref name=":1">Gennery A R, Cant AJ. Diagnosis of Severe Combined Immunodeficiency. Journal of Clinical Pathology. 2001; 54:191-195.</ref>Children born with this condition are born seemingly healthy, but develop recurrent infections very early in life. If left untreated, SCID will lead to severe conditions approximately at the age of six months and the death of the infant mostly within the first year. Earlier onset can be triggered by contracting bacterial, viral or fungal diseases.<ref>Justiz Vaillant A, Mohseni M. Severe Combined Immunodeficiency. Treasure Island (FL): StatPearls Publishing, 2022.</ref> SCID became known to the public through the story of the 1971 born American [https://en.wikipedia.org/wiki/David_Vetter David Vetter] who became known as the "boy in the bubble" because he spent most of his 12-years of life in a hermetically sealed suit. | ||
== Prevalence == | |||
== Etiology == | |||
SCID is most likely inherited X-linked or autosomal-recessive.<ref>Kumrah R, Vignesh P, Patra P, Singh A, Anjani G, Saini P, Sharma M, Kaur A, Rawat A. Genetics of severe combined immunodeficiency. Genes Dis. 2019;7(1):52-61.</ref> 15 genes have been linked to SCID, but in 15% of cases the involved genes are unknown.<ref name=":0">National Institute of Allergy and Infectious Diseases, Severe Combined Immunodeficiency, April 2019, Available from:https://www.niaid.nih.gov/diseases-conditions/severe-combined-immunodeficiency-scid [last accessed 13 March 2022].</ref> | |||
== Diagnosis == | |||
In high-income countries, all newborns will be routinely screened for SCID.<ref name=":0" /> | |||
== Medical management == | |||
Revision as of 13:14, 13 March 2022
Description[edit | edit source]
Severe Combined Immunodeficiency (SCID) is a collective term used for multiple congenital conditions caused by genetic defects, which inhibit the function of various parts of the immune system. Especially T- and B-cell function is impaired, the regular function of the immune response is impeded.[1]Children born with this condition are born seemingly healthy, but develop recurrent infections very early in life. If left untreated, SCID will lead to severe conditions approximately at the age of six months and the death of the infant mostly within the first year. Earlier onset can be triggered by contracting bacterial, viral or fungal diseases.[2] SCID became known to the public through the story of the 1971 born American David Vetter who became known as the "boy in the bubble" because he spent most of his 12-years of life in a hermetically sealed suit.
Prevalence[edit | edit source]
Etiology[edit | edit source]
SCID is most likely inherited X-linked or autosomal-recessive.[3] 15 genes have been linked to SCID, but in 15% of cases the involved genes are unknown.[4]
Diagnosis[edit | edit source]
In high-income countries, all newborns will be routinely screened for SCID.[4]
Medical management[edit | edit source]
- ↑ Gennery A R, Cant AJ. Diagnosis of Severe Combined Immunodeficiency. Journal of Clinical Pathology. 2001; 54:191-195.
- ↑ Justiz Vaillant A, Mohseni M. Severe Combined Immunodeficiency. Treasure Island (FL): StatPearls Publishing, 2022.
- ↑ Kumrah R, Vignesh P, Patra P, Singh A, Anjani G, Saini P, Sharma M, Kaur A, Rawat A. Genetics of severe combined immunodeficiency. Genes Dis. 2019;7(1):52-61.
- ↑ 4.0 4.1 National Institute of Allergy and Infectious Diseases, Severe Combined Immunodeficiency, April 2019, Available from:https://www.niaid.nih.gov/diseases-conditions/severe-combined-immunodeficiency-scid [last accessed 13 March 2022].
