immunodeficiency 93

A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygo

A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31.

Signs and symptoms

• Agammaglobulinemia
• Delayed fine motor development
• Delayed gross motor development
• Hypertrophic cardiomyopathy
• Absent circulating B cells
• Decreased circulating IgM concentration
• Broad-based gait
• Decreased class-switched memory B cell proportion
• Appendicular hypotonia
• Decreased total B cell count

Also known as: immunodeficiency-93 and hypertrophic cardiomyopathy