immunodeficiency 61

info · Immune

A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12.

Signs and symptoms

Decreased circulating IgM concentration
Recurrent bacterial infections
Recurrent otitis media
Decreased circulating IgG4 concentration
Recurrent respiratory infections
Attention deficit hyperactivity disorder
Decreased circulating IgG2 concentration
Recurrent sinusitis
Obesity

Also known as: IMD61