Conditions / Genetic
agammaglobulinemia 4
info · Genetic
An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.
Signs and symptoms
- Decreased circulating IgM concentration
- Protein-losing enteropathy
- Chronic sinusitis
- Recurrent bacterial infections
- Recurrent otitis media
- Recurrent pneumonia
- Decreased circulating IgA concentration
- Decreased circulating IgG concentration
- Agammaglobulinemia
- Decreased total neutrophil count
Also known as: B cell linker protein deficiency; B-cell linker protein deficiency; BLNK deficiency