Term Name: | immunodeficiency 99 |
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Synonyms: | immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias |
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. |
Ontology: | Human Disease [DOID:0061069] ( DOID:0061069 ) |