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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:0001290 | Generalized hypotonia |
| HP:0001382 | Joint hypermobility |
| HP:0002043 | Esophageal stricture |
| HP:0002616 | Aortic root aneurysm |
| HP:0002650 | Scoliosis |
| HP:0002721 | Immunodeficiency |
| HP:0002726 | Recurrent Staphylococcus aureus infections |
| HP:0002728 | Chronic mucocutaneous candidiasis |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0003496 | Increased circulating IgM level |
