immunodeficiency 63

A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy,

A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3.

Signs and symptoms

• Diarrhea
• Lymphocytic interstitial pneumonia
• Persistent CMV viremia
• Failure to thrive
• Increased circulating IgG concentration
• Autoimmunity
• Recurrent urinary tract infections
• Autoimmune hemolytic anemia
• Hepatomegaly
• Ichthyosis

Also known as: IL2RB deficiency; IMD63; immunodeficiency 63 with lymphoproliferation and autoimmunity