Disorder "X-linked severe combined immunodeficiency"
Found 1 record
Disorder information
Disorder name:
X-linked severe combined immunodeficiency
Disoder ID:
OMIM entry:
Synonyms:
X-Linked Severe Combined Immunodeficiency, gamma chain deficiency, SCID-X1, thymic epithelial hypoplasia, XSCID
Definition:
A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.?
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered gene activity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CD40LG | CD40LG:rs148594123 | Expressivity | Altered gene activity | Gene activity study | the combination of XIAP and CD40LG mutations contributed to the expression of clinical manifestations observed in affected individuals.more | more |
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