DISEASES

Disease-gene associations mined from literature

Human genes for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive [DOID:0090014]

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.

Synonyms:  severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive,  DOID:0090014,  Nk cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive,  severe combined immunodeficiency autosomal recessive T cellnegative B cellpositive Nk cellpositive,  autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID ...