| Metadata | |
|---|---|
| ID | DOID:0111959 |
| Name | immunodeficiency 15B |
| Definition | A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/24369075/ |
| Xrefs | |
| Synonyms |
IMD15B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |