immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia

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 m

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.

Signs and symptoms

• Decreased circulating IgM concentration
• Recurrent respiratory infections
• Decreased total B cell count
• Abnormally low T cell receptor excision circle level
• Decreased circulating IgG concentration
• Failure to thrive in infancy
• Urticaria
• Cervical lymphadenopathy

Also known as: IMD73C