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MIRAGE
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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95394 | Phosphoacetylglucosamine mutase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000218 | High palate |
| HP:0000389 | Chronic otitis media |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000793 | Membranoproliferative glomerulonephritis |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000964 | Eczematoid dermatitis |
| HP:0001047 | Atopic dermatitis |
| HP:0001156 | Brachydactyly |
| HP:0001250 | Seizure |
