has material basis in germline mutation in IL7R immunodeficiency 104 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5160 https://www.malacards.org/card/immunodeficiency_104_severe_combined IMD104 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive DOID:0090014 UMLS:C5676890 MESH:C563822 OMIM:608971 MEDGEN:1801019 severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive 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. GARD:0018293 MONDO:0012163 familial severe combined immunodeficiency T-B+ severe combined immunodeficiency