Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 5.3 | 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 |