| Metadata | |
|---|---|
| ID | DOID:0111953 |
| Name | immunodeficiency 23 |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/14981714/, https://pubmed.ncbi.nlm.nih.gov/24589341/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1187623009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CID due to PGM3 deficiency [EXACT] combined immunodeficiency due to PGM3 deficiency [EXACT] IMD23 [EXACT] PGM3-CDG [EXACT] PGM3-related congenital disorder of glycosylation [EXACT] |
| Parent Relationships |