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Metadata
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 RAC2 on chromosome 22q12.
https://pubmed.ncbi.nlm.nih.gov/25512081/
Xrefs

OMIM:618987

Synonyms

IMD73C [EXACT]

Parent Relationships

is_a combined immunodeficiency

is_a autosomal recessive disease

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