severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive

A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12.

Signs and symptoms

• Meningitis
• Diarrhea
• Decreased total T cell count
• Mastoiditis
• Severe combined immunodeficiency
• Pneumonia
• Decreased total B cell count
• Recurrent opportunistic infections
• Purulent rhinitis
• Failure to thrive

Also known as: SCID due to complete RAG1-2 deficiency; Severe combined immunodeficiency due to complete RAG1-2 deficiency; autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID