Conditions / Immune
infantile onset multisystem autoimmune disease 3
info · Immune
An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13.
Signs and symptoms
- Increased circulating interleukin 6 concentration
- Decreased circulating specific pneumococcal antibody concentration
- Increased circulating interleukin 10 concentration
- Decreased circulating IgM concentration
- Type I diabetes mellitus
- Hypothyroidism
- Vitiligo
- Urticaria
- Recurrent lower respiratory tract infections
- Partial absence of specific antibody response to tetanus vaccine