Search Ontology:
Human Disease
immunodeficiency 23
- Term ID
- DOID:0111953
- Synonyms
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- CID due to PGM3 deficiency
- combined immunodeficiency due to PGM3 deficiency
- IMD23
- PGM3-CDG
- PGM3-related congenital disorder of glycosylation
- 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. (2)
- References
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- GARD:4331
- MIM:615816
- NCI:C126339
- ORDO:443811
- SNOMEDCT_US_2023_03_01:1187623009
- UMLS_CUI:C4014371
- Ontology
- Human Disease ( DOID:0111953 )
- is a type of
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