Table 1.

Clinical Phenotype.

Gene	Reported variant type	Patient identifiers	Clinical phenotype	Viral Infections	Reference
MCM4	Homozygous c.70_71insG (frameshift)	6 + 8	Viral infection, short stature, adrenal insufficiency	P1: CMV P2: none P1: EBV, HSV, VZV P2: respiratory infections, EBV, HSV P3: EBV, HSV P4: respiratory infections, EBV, HSV, VZV P1: none P2: none P3: none P4: none P5: none P6: pneumonitis P7: none P8: none	(8, 10)
GINS1	Compound heterozygous P1-2: c.−48C>G (new donor splice site) c.247C>T p.R83C (missense) P3: c.−60A>G (new donor splice site)P4: c.455G>A p.C152Y	5	Viral infection, intrauterine growth retardation, neutropenia	P1: CMV, chest infection P2: chest infection, rotavirus P3: CMV, VZV, adenovirus, RSV, rotavirus P4: VZV, HSV, chest infection P5: VZV, influenza	(9)
MCM10	Compound heterozygous c.1276C>T p.R426C (missense) c.1744C>T p.R582X (stop gain)	1	Viral infections	CMV	(7)
GINS4	Compound heterozygous c.511G>C p.V171L (missense); c.C571T p.Q191X (stop gain)	2	Viral infections, intrauterine growth restriction and growth delay, neutropenia	P1: BCG infection after vaccination, CMV, VZV, HSV P2: VZV, HSV	(6)
POLA1	Hypomorphic X-linked c.328G>A	5	XLPDR, viral infections, intrauterine and postnatal growth retardation, hypogonadism	Respiratory infections	(79)
POLE2	Homozygous splice-site SNP c.1Ex13G>T	1	Respiratory viruses, BCG and Candida albicans infections, diphtheria and tetanus toxoid, combined immunodeficiency, hypothyroidism, facial dysmorphism	BCG infection after vaccination, respiratory infections	(81)

CMV: Cytomegalovirus

EBV: Epstein-Barr virus

HSV: Herpes simplex virus

VZV: Varicella zoster virus

RSV: respiratory syncytial virus

BCG: Bacillus Calmette-Guerin vaccine

SNP: single nucleotide polymorphism