TABLE I.

Clinical and immunologic phenotype of PI3K110δ patients

Patient	P1	P2	P3	P4	P5	P6	P7	P8	P9	P10
Family*	NA	NA	NA	F.II.1*	E.1*	D.I.1*	B.III.1*	NA	NA	G.1*
Mutation	E525K	E525K	E525K	E525K	E525K	E525K	E1021K	E1021K	E1021K	N334K
Clinical/immunologic phenotype
Transitional B cells	↑	↑	↑	↑	↑	↑	↑	ND	↑	NL
Specific antibody response	↓	↓	↓	↓	↓	↓	↓	ND	↓	NL
IgA	NL	NL	NL	↓	NL	NL	NL	ND	NL	↓
IgM	↑	NL	NL	NL	NL	NL	↑	ND	NL	↑
IgG	↑	↑	↑	NL	NL	↑	NL	ND	NL	↓
Switched B memory	↑	↑	↑	↓	↓	NL	↓	ND	Low/NL	↓
CD4+	NL	Low/NL	NL	NL	↓	↓	↓	ND	↓	↓
CD8+ effector	ND	ND	ND	↑	↑	↑	↑	ND	ND	↑
CD8+ central memory	ND	ND	ND	↑	NL	NL	NL	ND	ND	NL
EBV	Yes	Yes	Yes	Yes	Yes	Yes	Yes	ND	No	Yes
Lymphadenopathy	Yes	Yes	Yes	Yes	Yes	No	Yes	ND	No	Yes
Hepatosplenomegaly	Yes	Yes	Yes	No	No	No	No	ND	No	ND
Other				EBV+ lymphoma	CMV	CMV				Sinopulmonary bacterial infections

CMV, Cytomegalovirus; NA, not applicable; ND, not determined; NL, normal.

^*Refers to Lucas et al.²⁴