immunodeficiency 71

A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygou

A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1.

Signs and symptoms

• Perinuclear antineutrophil antibody positivity
• Skin rash
• Antinuclear antibody positivity
• Failure to thrive
• Recurrent infections
• Lymphadenopathy
• Increased total lymphocyte count
• Vasculitis
• Elevated erythrocyte sedimentation rate
• Decreased mean platelet volume

Also known as: IMD71; PLTEID; immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia; platelet abnormalities with eosinophilia and immune-mediated inflammatory disease