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

• NCI:C176703
• OMIM:616005
• UMLS_CUI:C4014934

Ontology

Human Disease   ( DOID:0111949 )