| Entry |
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|---|
| Name |
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| Type |
Loss of function
|
|---|
| Gene |
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [KO: K00922]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
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|---|
| Network |
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|---|
| Disease |
| H02585 | Roifman-Chitayat syndrome |
|
|---|
| Reference |
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|---|
| Authors |
Sharfe N, Karanxha A, Dadi H, Merico D, Chitayat D, Herbrick JA, Freeman S, Grinstein S, Roifman CM |
|---|
| Title |
Dual loss of p110delta PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features. |
|---|
| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Lucas CL, Chandra A, Nejentsev S, Condliffe AM, Okkenhaug K |
|---|
| Title |
PI3Kdelta and primary immunodeficiencies. |
|---|
| Journal |
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|---|
| LinkDB |
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