Term Name: | immunodeficiency 36 |
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Synonyms: | activated phosphoinositide 3-kinase delta syndrome 2, IMD36 |
Definition: | A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. |
Ontology: | Human Disease [DOID:0111949] ( DOID:0111949 ) |