FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ID (Ontology) DOID:0112062 (Human Disease)
Definition A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12.
Also Known As "IMD73C"
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 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia       3
 for disease ribbon | immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia       3
 model of | immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia       3
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__combined immunodeficiency_____|
                                  immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia  3 rec.
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Is a autosomal recessive disease
combined immunodeficiency
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Synonyms
  • "IMD73C" EXACT OMO:0003012
Secondary IDs
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MIM:618987