Immunodeficiency 23
Disease ID: disease_node_13300
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:4331, MIM:615816, NCI:C126339, ORDO:443811, SNOMEDCT_US_2023_03_01:1187623009, UMLS_CUI:C4014371 |
|---|---|
| Subclassof | DOID_628, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CID due to PGM3 deficiency, IMD23, PGM3-CDG, PGM3-related congenital disorder of glycosylation, combined immunodeficiency due to PGM3 deficiency |
| Doid Label | immunodeficiency 23 |
| Doid Description | A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13300 |
| Doid Id | DOID_0111953 |
| Label | Immunodeficiency 23 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease)