Panel | Mode of inheritance | Details |
---|---|---|
1 panel | ||
R-numbers: R15 Signed-off version 6.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Immunodeficiency 27A, (AR) 209950, Immunodeficiency 27B, (AD) 615978, Mycobacteriosis, Defects with susceptibility to mycobacterial infection (MSMD), Susceptibility to mycobacteria and Salmonella, Defects in Intrinsic and Innate Immunity |