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Details on Person severe combined immunodeficiency

Class:IdDisease:5433062
_displayNamesevere combined immunodeficiency
_timestamp2014-05-12 14:53:53
created[InstanceEdit:5433061] Shamovsky, Veronica, 2014-05-12
definitionA combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems.
identifier627
namesevere combined immunodeficiency
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymSevere combined immunodeficiency
combined T and B cell inborn immunodeficiency
SCID
Severe combined immunodeficiency disease (disorder)
SCID
(disease)[EntityWithAccessionedSequence:5602424] JAK3 C759R [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5602467] JAK3 del586-592 [cytosol] [Homo sapiens]
[DefinedSet:5602553] JAK3 variant (JH1,2 domains) [cytosol] [Homo sapiens]
[Complex:5602651] IL2RG:JAK3 variant [plasma membrane] [Homo sapiens]
[Complex:5602708] IL2:IL2R trimer:JAK1:JAK3 variant [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5602741] JAK3 G589S [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:5673693] IL2RG E68K [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5673695] IL2RG Q144X [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5673703] IL2RG M1I [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5673705] IL2RG L172Q [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by severe combined immunodeficiency (5433062)