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GENE - TERM ANNOTATION REPORT

RGD ID: 12217320
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: RWDD2A
Name: RWD domain containing 2A
Acc ID: DOID:0111953
Term: immunodeficiency 23
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. (DO)
Definition Source(s): PMID:14981714 "DO" "DO", PMID:24589341 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
RWDD2A ISORWDD2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 23PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532
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