Autosomal recessive combined immunodeficiency is characetrized by recurrent infections in the presence of normal numbers of T and B lymphocytes, but defective cellular and humoral immunity. IMD12 is caused due to mutations in the MALT1 gene.
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
Autosomal recessive
18q21.32
Autosomal recessive combined immunodeficiency is characetrized by recurrent infections in the presence of normal numbers of T and B lymphocytes, but defective cellular and humoral immunity. IMD12 is caused due to mutations in the MALT1 gene.