|OBO ID: DOID:0111953|
|Term Name:||immunodeficiency 23||Search Ontology:|
|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 PGM3 on chromosome 6q14.1. (2)|
|Ontology:||Human Disease (DOID:0111953)|
|is a type of:||
OTHER immunodeficiency 23 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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