immunodeficiency 97

Term ID

DOID:0061067

Synonyms

immunodeficiency 97 with autoinflammation

Definition

A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. https://pubmed.ncbi.nlm.nih.gov/31554793/

References

MIM:619802

Ontology

Human Disease ( DOID:0061067 )

Relationships

is a type of: autosomal recessive disease T cell and NK cell immunodeficiency

autosomal recessive disease T cell and NK cell immunodeficiency Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models