Conditions / Genetic

agammaglobulinemia 1

info · Genetic

An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32.

Signs and symptoms

Decreased circulating immunoglobulin concentration
Decreased total B cell count
Panhypogammaglobulinemia
Recurrent pneumonia
Recurrent bacterial infections
Recurrent respiratory infections
Recurrent enteroviral infections
Decreased total neutrophil count
Recurrent otitis media
Failure to thrive