immunodeficiency 104
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.
MONDO:0031520
familial severe combined immunodeficiency
is_a
MONDO:0044200
T-B+ severe combined immunodeficiency
is_a
IMD104
exact
autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
exact
severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
exact
severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
exact
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
exact