Table 5.

Genetic analysis and phospo-S6 Kinase evaluation of eight APDS-1 patients.

Patients No.	PIK3CD_MUT	PIK3CD_EFF	pS6K
1	c.1570T > G	p.Y524D	Increased
2	c.3061G > A	p.E1021K	Increased *
3	c.3061G > A	p.E1021K	Increased *
4	c.1973C > T	p.P658L	Increased *
5	c.323C > G	p.R108L	Increased *
6	c.3061G > A	p.E1021K	Increased *
7	c.1574A > C	p.E525A	Increased *
8	c.3061G > A	p.E1021K	Increased *

Abbreviations: APDS-1: Activated Phosphoinositide 3-Kinase Delta Syndrome-1, PIK3CD_EFF: PIK3CD effect, PIK3CD_MUT: PIK3CD mutation, pS6K: phospo-S6 Kinase. Note: * As previously reported [1,2,24,25,27].