Disease ID | Source | Name | Description |
618648 | OMIM | Immunodeficiency 65 (IMD65) | An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines. The disease is caused by variants affecting the gene represented in this entry. |