| Metadata | |
|---|---|
| ID | DOID:0090014 |
| Name | severe combined immunodeficiency 104 |
| Definition | A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. https://pubmed.ncbi.nlm.nih.gov/15661025/, https://www.ncbi.nlm.nih.gov/pubmed/9843216, https://www.ncbi.nlm.nih.gov/pubmed/9068311, https://www.ncbi.nlm.nih.gov/pubmed/15661025 |
| Xrefs | |
| Alternateids |
DOID:0060015 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID [EXACT] interleukin-7 receptor alpha deficiency [EXACT] severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance |