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| Term | immunodeficiency 23 | ID (Ontology) | DOID:0111953 (Human Disease) |
| 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. | ||
| Also Known As | "CID due to PGM3 deficiency" ; "combined immunodeficiency due to PGM3 deficiency" ; "IMD23" (for all, see Synonyms field below) | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__________________ combined immunodeficiency | |__combined T cell and B cell immunodeficiency__| immunodeficiency 23 1 rec. |
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| Is a |
autosomal recessive disease combined T cell and B cell immunodeficiency |
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External Crossreferences & Linkouts
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GARD:4331 MIM:615816 NCI:C126339 ORDO:443811 SNOMEDCT_US_2023_03_01:1187623009 UMLS_CUI:C4014371 |
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