immunodeficiency 40

A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in

A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.

Signs and symptoms

• Decreased total T cell count
• Combined immunodeficiency
• Recurrent pneumonia
• Hepatomegaly
• Rectal fistula
• Decreased antigen-specific T cell proliferation
• Elevated circulating alanine aminotransferase concentration
• Macrovesicular hepatic steatosis
• Pulmonary infiltrates
• Interstitial pneumonitis

Also known as: DOCK2 deficiency; IMD40