infantile onset multisystem autoimmune disease 1

Term ID

DOID:0061160

Synonyms

Definition

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. https://pubmed.ncbi.nlm.nih.gov/25359994/

References

• MIM:615952

Ontology

Human Disease   ( DOID:0061160 )