Disease ID | Source | Name | Description |
233600 | OMIM | Immunodeficiency 59 and hypoglycemia (IMD59) | An autosomal recessive primary immunologic disorder characterized by combined immunodeficiency, granulocytopenia, B-cell and dendritic cell deficiency, recurrent septic infections of the respiratory tract, skin and mucous membranes, and disturbed glucose metabolism. The disease may be caused by variants affecting the gene represented in this entry. |