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

• MIM:618987

Ontology

Human Disease   ( DOID:0112062 )