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Metadata
ID DOID:0111949
Name immunodeficiency 36
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/
Xrefs

NCI:C176703

OMIM:616005

UMLS_CUI:C4014934

Subsets

NCIthesaurus

Synonyms

activated phosphoinositide 3-kinase delta syndrome 2 [EXACT]

IMD36 [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a autosomal dominant disease

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