| Metadata | |
|---|---|
| ID | DOID:0061069 |
| Name | immunodeficiency 99 |
| Definition | A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. https://pubmed.ncbi.nlm.nih.gov/32484799/ |
| Xrefs | |
| Synonyms |
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance existence starts during some Pediatric onset |