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Human Disease

immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia

Term ID
DOID:0112062
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. https://pubmed.ncbi.nlm.nih.gov/25512081/
References
Ontology
Human Disease   ( DOID:0112062 )
Relationships
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Genes Involved
Zebrafish Models