Disease

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.

Synonyms

IMD73C

Cross References

MIM:618987

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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