Search Ontology:
Human Disease

immunodeficiency 36

Term ID
DOID:0111949
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. https://pubmed.ncbi.nlm.nih.gov/27221134/
References
Ontology
Human Disease   ( DOID:0111949 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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