Immunodeficiency 104
Immunodeficiency 104
Definition
A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.
Also known as autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID, IMD104, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive, severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type — per MONDO