Disorder "Autoimmune lymphoproliferative syndrome"
Found 2 records
Disorder information
Disorder name:
Autoimmune lymphoproliferative syndrome
Disoder ID:
OMIM entry:
Synonyms:
ALPS, Canale-Smith syndrome
Definition:
A hypersensitivity reaction type iv disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). it is characterized by the production of an abnormally large number of lymphocytes. accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered gene activity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| IKBKE | IKBKE:c.148G-A(p.E50K) | Expressivity | Altered gene activity | Gene activity study | Though further investigation is needed to determine whether these variants modify the patient’s condition, it is unlikely that they cause disease by themselves since they were inherited from the unaffected father.more | more |
| IKBIP | IKBIP:c.1088T-C(p.L363S) | Expressivity | Altered gene activity | Gene activity study | Though further investigation is needed to determine whether these variants modify the patient’s condition, it is unlikely that they cause disease by themselves since they were inherited from the unaffected father.more | more |
Total 2,Each Page
,Jump To
Page