Table 2.

Summary of reported patients with IFNAR1 deficiency

Gender	Age	Mortality	Inheritance	Zygosity	mRNA change	Amino acid change	Natural viral infection	Vaccine side effects	References
Male	9 years	-	AR	Hom	c.674–2 A > G	p.V225fs*	-	MMR	Hernandez et al
Female	12 years	-	AR	Comp Het	c.674–1 G > A	p.V225fs*	-	YFV	Hernandez et al
					c.783 G > A	p.W261*
Female	6 months	Dead	AR	Hom	Large del exon 11	p.Y481fs*	HSV	*	Bastard et al
Male	13 months	-	AR	Hom	Large del exon 11	p.Y481fs*	**	-	Bastard et al
Male	15 months	Dead	AR	Hom	c.992 C > T	p.Q308*	EBV	MMR	Gothe et al
Male	2 months	-	AR	Hom	c.1671_1821 del	p.*557E ext46	CMV	-	Hoyos-Bachiloglu et al
Male	38 years	-	AR	Hom	c.219 G > C	p.W73C	COVID-19	-	Zhang et al
Male	26 years	-	AR	Hom	c.1264 A > G	p.S422R	COVID-19	-	Zhang et al
Male	13 years	-	AR	Hom	c.674-2A > G	p.V225fs*	COVID-19, influenza	MMR	Khanmohammadi et al
Female	23 years	-	AD	Het	c.1000 delCCT	p.P335del	COVID-19	-	Zhang et al
Female	3 years	Dead	AR	Hom	Large del exons 7–8	p.H263fs*	COVID-19	-	This study

AR autosomal recessive, AD autosomal dominant, Hom homozygous, Het heterozygous, Comp Het compound heterozygous, MMR measles, mumps, and rubella vaccine, YFV yellow fever vaccine, HSV herpes virus infection, EBV Epstein-Barr virus, CMV cytomegalovirus

^*The patient had one night of fever after MMR vaccine and atypical Kawasaki disease, without typical cardiac involvement

^**Viral serological data showed him to be positive for antibodies against mumps, HSV-1, human herpes viruses 4, 5, and 6, rhinovirus, adenovirus, enterovirus B, varicella zoster virus (VZV), cytomegalovirus, EBV, measles virus, mumps virus, hepatitis A virus, influenza A virus, and respiratory syncytial virus