OBO ID: DOID:0111949
Term Name: immunodeficiency 36 Search Ontology:
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 )
OTHER immunodeficiency 36 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIK3R1 Immunodeficiency 36 616005
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None