Conditions / Immune
immunodeficiency 85
info · Immune
A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12.
Signs and symptoms
- Decreased circulating IgM concentration
- Vomiting
- Eczematoid dermatitis
- Recurrent respiratory infections
- Growth delay
- Decreased circulating IgA concentration
- Chronic diarrhea
- Decreased circulating IgG concentration
- Reduced total natural killer cell count
- Decreased total T cell count
Also known as: immunodeficiency 85 and autoimmunity