immunodeficiency 94

Term ID

DOID:0061064

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. https://pubmed.ncbi.nlm.nih.gov/33517393/

References

MIM:619750

Ontology

Human Disease ( DOID:0061064 )

Relationships

is a type of: autosomal dominant disease primary immunodeficiency disease

autosomal dominant disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models