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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:0004430 | Severe combined immunodeficiency |
| HP:0004789 | Lactose intolerance |
| HP:0005403 | T lymphocytopenia |
| HP:0005407 | Decreased proportion of CD4-positive helper T cells |
| HP:0005528 | Bone marrow hypocellularity |
| HP:0006532 | Recurrent pneumonia |
| HP:0007083 | Hyperactive patellar reflex |
| HP:0008587 | Mild neurosensory hearing impairment |
| HP:0011109 | Chronic sinusitis |
| HP:0011343 | Moderate global developmental delay |
