Genomics England
GMS Panels
Panels
Genes and Entities

C4B

complement C4B (Chido blood group)
OMIM: 120820
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C4B deficiency, 614379, SLE predisposition, SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense, Complement Deficiencies