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General Information
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| Term |
immunodeficiency 36 |
ID (Ontology) |
DOID:0111949 (Human Disease) |
| Definition |
A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. |
| Also Known As |
"activated phosphoinositide 3-kinase delta syndrome 2" ; "IMD36" ; "immunodeficiency-36 with lymphoproliferation" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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immunodeficiency 36 | 1 | for disease ribbon | immunodeficiency 36 | 1 | model of | immunodeficiency 36 | 1 |
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Relationships