STK4

serine/threonine kinase 4
OMIM: 604965
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity, T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, AR hyperimmunoglobulin E syndrome, Combined immunodeficiency, Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease, Immunodeficiencies affecting cellular and humoral immunity