immunodeficiency 23

A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infectio

A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1.

Signs and symptoms

• Increased circulating IgE concentration
• Increased total eosinophil count
• Recurrent respiratory infections
• Recurrent Staphylococcus aureus infection
• Ataxia
• Global developmental delay
• Rheumatoid factor positive
• Failure to thrive
• Abscess
• Eczematoid dermatitis

Also known as: CID due to PGM3 deficiency; IMD23; PGM3-CDG; PGM3-related congenital disorder of glycosylation; combined immunodeficiency due to PGM3 deficiency