Term Name: | immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia |
---|---|
Synonyms: | IMD73C |
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. |
Ontology: | Human Disease [DOID:0112062] ( DOID:0112062 ) |