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immunodeficiency 36
Summary
- Synonym
-
- IMD36
- activated phosphoinositide 3-kinase delta syndrome 2
- 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.
- Super Class
- autosomal dominant disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111949
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000403 | Recurrent otitis media |
| HP:0001369 | Arthritis |
| HP:0001508 | Failure to thrive |
| HP:0001744 | Splenomegaly |
| HP:0002090 | Pneumonia |
| HP:0002110 | Bronchiectasis |
| HP:0002240 | Hepatomegaly |
| HP:0002242 | Abnormal intestine morphology |
