Table 1. Patient demographic, genotypic,... | Rockefeller University Press

Table 1.

Patient demographic, genotypic, and clinical information

Patient	A.II.2	B.II.2	C.II.1	D.II.1	E.II.1	F.II.1
Age	15 mo	7 yr	37 yr	32 yr	8 yr	16 yr
Sex	Male	Male	Male	Male	Male	Female
Heterozygous SPI1 variant	g.18716_18718delinsAG	g.18722C>T	g.19603C>A	g.23169A>C	g.23230_23231delGC	g.23259T>G
	c.325_327delGGCinsAG	c.331C>T	c.366C>A	c.635A>C	c.696_697delGC	c.725T>G
	p.G109Sfs*78	p.Q111X	p.Y122X	p.H212P	p.L233Afs*53	p.V242G
Variant CADD score	—	42	35	26.9	—	28.9
Variant origin	De novo	De novo	De novo	De novo	Unphased	Unphased
Infections	Sinopulmonary, echovirus 25 viremia	Sinopulmonary, meningitis	Sinopulmonary	Sinopulmonary, polioencephalitis	Sinopulmonary	Sinopulmonary
Complications	Transient neutropenia, reactive arthritis	Neonatal lipodystrophy, T1D	Progressive lymphopenia	Paralytic poliomyelitis	Myositis	—
Therapies	IgG replacement, pocapavir, HSCT	IgG replacement	IgG replacement	IgG replacement	IgG replacement	IgG replacement

Patient	A.II.2	B.II.2	C.II.1	D.II.1	E.II.1	F.II.1
Age	15 mo	7 yr	37 yr	32 yr	8 yr	16 yr
Sex	Male	Male	Male	Male	Male	Female
Heterozygous SPI1 variant	g.18716_18718delinsAG	g.18722C>T	g.19603C>A	g.23169A>C	g.23230_23231delGC	g.23259T>G
	c.325_327delGGCinsAG	c.331C>T	c.366C>A	c.635A>C	c.696_697delGC	c.725T>G
	p.G109Sfs*78	p.Q111X	p.Y122X	p.H212P	p.L233Afs*53	p.V242G
Variant CADD score	—	42	35	26.9	—	28.9
Variant origin	De novo	De novo	De novo	De novo	Unphased	Unphased
Infections	Sinopulmonary, echovirus 25 viremia	Sinopulmonary, meningitis	Sinopulmonary	Sinopulmonary, polioencephalitis	Sinopulmonary	Sinopulmonary
Complications	Transient neutropenia, reactive arthritis	Neonatal lipodystrophy, T1D	Progressive lymphopenia	Paralytic poliomyelitis	Myositis	—
Therapies	IgG replacement, pocapavir, HSCT	IgG replacement	IgG replacement	IgG replacement	IgG replacement	IgG replacement

CADD, combined annotation-dependent depletion; HSCT, hematopoietic stem cell transplant; T1D, type 1 diabetes mellitus.