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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00091 | T-B+Severe combined immunodeficiency | ... and NK lymphocytes. The second most common variant is autosomal recessive and due to mutations of the JAK3 gene. IL-7R alpha gene mutations result in a pure T-cell deficiency. Rare cases of SCID consisting ... | Primary immunodeficiency |
IL2RG [HSA:3561] [KO:K05070] JAK3 [HSA:3718] [KO:K11218] IL7R [HSA:3575] [KO:K05072] PTPRC [HSA:5788] [KO:K06478] CD3D [HSA:915] [KO:K06450] CD3E [HSA:916] [KO:K06451] CD247 [HSA:919] [KO:K06453] CORO1A [HSA:11151] [KO:K13882] BCL11B [HSA:64919] [KO:K22046] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |