| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00091 | T-B+Severe combined immunodeficiency |
| H00093 | Combined immunodeficiency |
|
|---|
| Reference |
|
|---|
| Authors |
Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ |
|---|
| Title |
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Schmalstieg FC, Leonard WJ, Noguchi M, Berg M, Rudloff HE, Denney RM, Dave SK, Brooks EG, Goldman AS |
|---|
| Title |
Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
