Conditions / Immune
infantile onset multisystem autoimmune disease 1
info · Immune
An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21.
Signs and symptoms
- Autoimmune hemolytic anemia
- Type I diabetes mellitus
- Short stature
- Hepatosplenomegaly
- Autoimmune thrombocytopenia
- Autoimmunity
- Autoimmune neutropenia
- Abnormality of the dentition
- Exocrine pancreatic insufficiency
- Celiac disease