mitogen-activated protein kinase kinase kinase 14
OMIM: 604655
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Recessive Atypical Combined Immunodeficiency, Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity, Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections, Immunodeficiencies affecting cellular and humoral immunity