| Disease ID | Source | Name | Description |
| 615617 | OMIM | Immunodeficiency 19 (IMD19) | An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype. The disease is caused by variants affecting the gene represented in this entry. |