immunodeficiency 15B

A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal

A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21.

Signs and symptoms

• Decreased circulating immunoglobulin concentration
• Recurrent oral thrush
• Recurrent infections
• Agammaglobulinemia
• Failure to thrive
• Reduced total natural killer cell count
• Increased total monocyte count
• Decreased mitogen-induced T-cell proliferation
• Chronic diarrhea
• Immunodeficiency

Also known as: IMD15B