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immunodeficiency 23
Summary
- Synonym
-
- CID due to PGM3 deficiency
- IMD23
- PGM3-CDG
- PGM3-related congenital disorder of glycosylation
- combined immunodeficiency due to PGM3 deficiency
- 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.
- Super Class
- autosomal recessive disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111953
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100633 | Esophagitis |
| HP:0100806 | Sepsis |
| HP:0200029 | Vasculitis in the skin |
| HP:0200042 | Skin ulcer |
| HP:0200101 | Decreased/absent ankle reflexes |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
