Conditions / Genetic
agammaglobulinemia 9
info · Genetic
An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p
An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21.
Signs and symptoms
- Agammaglobulinemia
- Recurrent bacterial infections
- Absent circulating B cells
- Failure to thrive
- Eczematoid dermatitis
- Thrombocytopenia
- Seborrheic dermatitis
- Sensorineural hearing impairment