/immunodeficiency 104

immunodeficiency 104

Rare Disease

MONDO:0012163

Also Known As

IMD104autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCIDautosomal recessive T cell-negative, B-cell positive, NK cell-positive SCIDsevere combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positivesevere combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive typesevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positiveSCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive

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.