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immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease combined immunodeficiency
External Links
- Disease Ontology
- DOID:0112062
- Mondo Disease Ontology
- OMIM
