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Date: Tue Jan 28 2025
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immunodeficiency 36
DOID:0111949
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
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.
[1]
Synonyms
activated phosphoinositide 3-kinase delta syndrome 2
IMD36
Cross References
MIM:616005
NCI:C176703
Show All 3
Parent Terms
autosomal dominant disease
combined T cell and B cell immunodeficiency
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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