Metadata | |
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ID | DOID:0112062 |
Name | immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia |
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. https://pubmed.ncbi.nlm.nih.gov/25512081/ |
Xrefs | |
Synonyms |
IMD73C [EXACT] |
Parent Relationships |