Genetic screening in a Brazilian cohort with inborn errors of immunity

Ferreira, Cristina Santos; Francisco Junior, Ronaldo da Silva; Gerber, Alexandra Lehmkuhl; Guimarães, Ana Paula de Campos; de Carvalho, Flavia Amendola Anisio; dos Reis, Bárbara Carvalho Santos; Pinto-Mariz, Fernanda; de Souza, Monica Soares; de Vasconcelos, Zilton Farias Meira; Goudouris, Ekaterini Simões; Vasconcelos, Ana Tereza Ribeiro

doi:10.1186/s12863-023-01148-z

BMC Genomic Data

Table 1 Potentially IEI-causative variants identified in patients WES data

From: Genetic screening in a Brazilian cohort with inborn errors of immunity

Patient	OMIM Disease	OMIM number	Inheritance	Gene	Variant	Zigosity	MAF	ACMG Classification
Patient 1	Agammaglobulinemia, X-linked 1	300755	XLR	BTK	NM_000061.3:c.1111_1112dup (p.Arg372ProfsTer32)	Hem		LP
Patient 2	Agammaglobulinemia, X-linked 1	300755	XLR	BTK	NM_000061.3:c.167T > A (p.Ile56Lys)	Hem		LP
Patient 3	Agammaglobulinemia, X-linked 1	300755	XLR	BTK	NM_000061.3:c.993dup (p.Arg332ThrfsTer17)	Hem		LP
Patient 4	Agammaglobulinemia, X-linked 1	300755	XLR	BTK	NM_000061.3:c.336C > A (p.Tyr112Ter)	Hem		P
Patient 5	Agammaglobulinemia, X-linked 1	300755	XLR	BTK	NM_000061.3:c.1735G > T (p.Asp579Tyr)	Hem		P
Patient 6	Immunodeficiency, X-linked, with hyper-IgM	308230	XLR	CD40LG	NM_000074.3:c.436_438del (p.Tyr146del)	Hem		P
Patient 7	B-cell expansion with NFKB and T-cell anergy	616452	AD	CARD11	NM_032415.7:c.752T > C (p.Leu251Pro)	Het		LP
Patient 8	Wiskott-Aldrich Syndrome	301000	XLR	WAS	NM_000377.3:c.889C > T (p.Gln297Ter)	Hem		LP
Patient 9	Chronic granulomatous disease, X-linked	306400	XLR	CYBB	NM_000397.4:c.483G > A (p.Lys161 =)	Hem		P
Patient 10	C6 deficiency	612446	AR	C6	NM_001115131.3:c.1138del (p.Gln380SerfsTer7)	Hom	0.000514112	P
Patient 11	Immunodeficiency, common variable, 8, with autoimmunity	614700	AR	LRBA	NM_001367550.1:c.6624_6625del(p.Glu2208AspfsTer3)	Het		P
Patient 11	Immunodeficiency, common variable, 8, with autoimmunity	614700	AR	LRBA	NM_001367550.1:c.7452+1G > T	Het		P
Patient 12	Ichthyosis, congenital, autosomal recessive 4B (harlequin)	242500	AR	ABCA12	NM_173076.3:c.318-2A > G	Het		LP
Patient 12	Ichthyosis, congenital, autosomal recessive 4B (harlequin)	242500	AR	ABCA12	NM_173076.3:c.2033A > G (p.Asn678Ser)	Het	0.00137	VUS
Patient 13	Citrullinemia, type II, neonatal-onset	605814	AR	SLC25A13	NM_014251.3:c.1618C > T(p.Pro540Ser)	Het	0.000103421	LP
Patient 13	Citrullinemia, type II, neonatal-onset	605814	AR	SLC25A13	NM_014251.3:c.1754G > A(p.Arg585His)	Het	0.0000119439	LP

AR Autosomal recessive, AD Autosomal dominant, XLR X-linked recessive, Hem Hemizygous, Hom Homozygous, Het Heterozygous, MAF minor allele frequency, LP Likely Pathogenic, P Pathogenic, VUS Variant of Uncertain Significance

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