reticular dysgenesis

A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasi

A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.

Signs and symptoms

• Lethargy
• Hearing impairment
• Short stature
• Severe Klebsiella infection
• Abnormally low T cell receptor excision circle level
• Absence of circulating granulocytes
• Decreased total lymphocyte count
• Bone marrow hypocellularity
• Cholestatic liver disease
• Reduced total natural killer cell count

Also known as: De Vaal disease