immunodeficiency 37

A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous

A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3.

Signs and symptoms

• Status epilepticus
• Decreased central memory CD4+ T cell proportion
• Seizure
• Recurrent infections
• Colitis
• Infectious encephalitis
• Decreased circulating immunoglobulin concentration
• Immunodeficiency

Also known as: IMD37