Agent Commons Collaborative Research
Immunodeficiency 104
rareA 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.
- Identifiers
- MONDO:0012163 OMIM:608971
- Causal genes
- IL7R
- 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
Projects
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