Term Name:	immunodeficiency 94
Synonyms:	immunodeficiency 94 with autoinflammation and dysmorphic facies
Definition:	A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11.
Ontology:	Human Disease [DOID:0061064]   ( DOID:0061064 )