Non-CF bronchiectasis

Gene: PIK3CD

Green List (high evidence)

Activated PI3K-δ Syndrome (APDS), a Primary Immunodeficiency associated with a dominant gain-of-function mutation E1021K in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene. We found E1021K in 17 patients from seven unrelated families, but not among 3,346 healthy subjects. APDS was characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased IgM and reduced IgG2 levels in serum

Created: 17 Oct 2015, 7:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Comment on list classification: Originally a red gene, however has a green expert review and multiple cases reported in OMIM. Several different missense variants have been reported which have a gain-of-function effect, which will be considered tier 2.

Created: 10 May 2016, 9:49 a.m.

"PI3Kinase delta activating mutation" was submitted by an expert. The HGNC approved symbol for this gene was curated as PIK3CD, and mode of pathogenicity was added as gain of function to capture the information from the expert.

Created: 8 Jul 2015, 10:28 a.m.