CD40LG

PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency, X-linked, with hyper-IgM, CD40 ligand deficiency, CSR defects and Hyper IgM (HIGM) syndromes, Hyper-IGM immunodeficiency, X-linked, XHIM, Hyper-IGM syndrome, HIGM, IHIS, Immunodeficiency 3, IMD3, Hyper-IgM syndrome due to CD40 ligand deficiency, Hyper-IgM syndrome due to CD40L deficiency, Hyper-IgM syndrome type 1, HIGM1, Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections, Immunodeficiencies affecting cellular and humoral immunity