Table 2.

Viral infections in patients with germline gain-of-function mutations in PIK3R1.

Characteristic	Deau et al. (31)	Lucas et al. (32)	Elkaim et al. (45)	Olbrich et al. (46)	Kuhlen et al. (47)	Bravo Garcia-Morato et al. (48)	Hauck et al. (49)
Number of patients reported	4	4	36a	2	1	2	3
Mutation	Splice donor-site mutations resulting in loss of exon 11	Splice donor-site mutations resulting in loss of exon 11	Splice donor-site mutations resulting in loss of exon 11	Splice donor-site mutations resulting in loss of exon 11	Splice donor-site mutations resulting in loss of exon 11	Splice donor-site mutations resulting in loss of exon 11	Splice donor-site mutations resulting in loss of exon 11
EBV viremia	1/4	0/3	8/36	0/2	0/1	1/2	0/3
EBV + lymphoma	NR	0/3	One with HL	NR	NR	NR	1 DBCL
Other EBV diseases	NR	0/3	Four with EBV LPD	NR	NR	NR	NR
CMV viremia	1/4	0/3	6/35	2/2	1/1	0/2	NR
CMV lymphadenitis	NR	1/3	2	NR	1/1	NR	NR
Other severe herpesviruses	NR	NR	Two hospitalized for varicella	NR	NR	NR	NR
Other severe viral infections	Enterovirus enteritis	NR	One with measles encephalitis, two with chronic HBV, one with chronic HCV	ICU hospitalization for RSV	NR	NR	NR
CD4 cell numbers reduced	1/4	NR	8/23	0/2	NR	1/2	1/3
CD8 cell numbers reduced	0/4	NR	1/23	0/2	NR	0/2	0/3
NK cell numbers reduced	1/4	NR	NR	NR	NR	0/2	0/3

^aEight of the 36 were reported in Deau et al. (31) or Lucas et al. (32).

EBV, Epstein–Barr virus; HL, Hodgkin lymphoma; DBCL, diffuse large B cell lymphoma; LPD, lymphoproliferative disease; CMV, cytomegalovirus; HBV, hepatitis B virus; HCV, hepatitis C virus; ICU, intensive care unit; RSV, respiratory syncytial virus.