X-linked severe combined immunodeficiency

A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interle

A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.

Signs and symptoms

• Decreased circulating IgM concentration
• Decreased total T cell count
• Decreased circulating IgE concentration
• Agammaglobulinemia
• Severe combined immunodeficiency
• Hepatomegaly
• Pneumonia
• Abnormal natural killer cell physiology
• Failure to thrive
• Recurrent bacterial meningitis

Also known as: SCID-X1; XSCID; gamma chain deficiency; thymic epithelial hypoplasia