Table 1. Features of patients with... | American Society of Hematology

Table 1.

Features of patients with SH2D1A mutation

Clinical phenotypes		Carrier detection by genetic diagnosis	SH2D1A mutation		Age at onset (y)	Dysgammaglobulinemia	Clinical history
Case no.	Family history	Carrier detection by genetic diagnosis	Type	Nucleotide/(protein)	Age at onset (y)	IgG/IgA/IgM	Clinical history
Fulminant infectious mononucleosis
1	+ brother of case 2	Grandmother	Nonsense	Exon 2: 462C > T	2	1190/555/2010	Died after 19 days
1	+ brother of case 2	Mother	Nonsense	(Arg 55Stop)	2	1190/555/2010	Died after 19 days
2	+ brother of case 1	Grandmother	Nonsense	Exon 2: 462C > T	2	1661/756/1296	Died after 20 days
2	+ brother of case 1	Mother	Nonsense	(Arg 55Stop)	2	1661/756/1296	Died after 20 days
3	−	ND	Nonsense	Exon 2: 462C > T	3	1502/126/3604	Died after 18 days
3	−	ND	Nonsense	(Arg 55Stop)	3	1502/126/3604	Died after 18 days
^*4	−	Mother	Deletion	Exons 1-4	1	1570/543/1200	Died after 21 days
5	−	No carrier	Deletion	Exon 3: 584del(A) (frameshift)	1	1548/827/700	Died after 34 days
6	+ 1 brother with EBV-negative lymphoma	Mother	Splice	Exon 1: 416 C > T	2	938/635/926	Died after 21 days
				Intron 1: 5′ splice site
				(del 22bp, frameshift)
7	+ 1 brother with	Mother	Missense	Exon 1: 396G > T	8	hypogammaglobulinemia	In remission after
	hypogammaglobulinemia and lymphoma	Sister		(Asp 33Tyr)		since 4 years old	chemotherapy followed by PBSCT
8	−	ND	Missense	Exon 1: 378G > A	1	1002/283/322	Died after about 1 month
8	−	ND	Missense	(Gly 27 Ser)	1	1002/283/322	Died after about 1 month
9	+ 1 brother with hypogammaglobulinemia	ND	Missense	Exon 1: 321C > G	3	1280/214/638	Stable at 17 years old under IVIG
9	+ 1 brother with hypogammaglobulinemia	ND	Missense	(His 8 Asp)	3	→ hypogammaglobulinemia	Stable at 17 years old under IVIG
EBV-associated lymphoma
10	−	Mother	Missense	Exon 2: 445G > T	3	51/4/24	In remission after chemotherapy USCT planned
10	−	Mother	Missense	(Gly 49 Val)	3	51/4/24	In remission after chemotherapy USCT planned

Clinical phenotypes		Carrier detection by genetic diagnosis	SH2D1A mutation		Age at onset (y)	Dysgammaglobulinemia	Clinical history
Case no.	Family history	Carrier detection by genetic diagnosis	Type	Nucleotide/(protein)	Age at onset (y)	IgG/IgA/IgM	Clinical history
Fulminant infectious mononucleosis
1	+ brother of case 2	Grandmother	Nonsense	Exon 2: 462C > T	2	1190/555/2010	Died after 19 days
1	+ brother of case 2	Mother	Nonsense	(Arg 55Stop)	2	1190/555/2010	Died after 19 days
2	+ brother of case 1	Grandmother	Nonsense	Exon 2: 462C > T	2	1661/756/1296	Died after 20 days
2	+ brother of case 1	Mother	Nonsense	(Arg 55Stop)	2	1661/756/1296	Died after 20 days
3	−	ND	Nonsense	Exon 2: 462C > T	3	1502/126/3604	Died after 18 days
3	−	ND	Nonsense	(Arg 55Stop)	3	1502/126/3604	Died after 18 days
^*4	−	Mother	Deletion	Exons 1-4	1	1570/543/1200	Died after 21 days
5	−	No carrier	Deletion	Exon 3: 584del(A) (frameshift)	1	1548/827/700	Died after 34 days
6	+ 1 brother with EBV-negative lymphoma	Mother	Splice	Exon 1: 416 C > T	2	938/635/926	Died after 21 days
				Intron 1: 5′ splice site
				(del 22bp, frameshift)
7	+ 1 brother with	Mother	Missense	Exon 1: 396G > T	8	hypogammaglobulinemia	In remission after
	hypogammaglobulinemia and lymphoma	Sister		(Asp 33Tyr)		since 4 years old	chemotherapy followed by PBSCT
8	−	ND	Missense	Exon 1: 378G > A	1	1002/283/322	Died after about 1 month
8	−	ND	Missense	(Gly 27 Ser)	1	1002/283/322	Died after about 1 month
9	+ 1 brother with hypogammaglobulinemia	ND	Missense	Exon 1: 321C > G	3	1280/214/638	Stable at 17 years old under IVIG
9	+ 1 brother with hypogammaglobulinemia	ND	Missense	(His 8 Asp)	3	→ hypogammaglobulinemia	Stable at 17 years old under IVIG
EBV-associated lymphoma
10	−	Mother	Missense	Exon 2: 445G > T	3	51/4/24	In remission after chemotherapy USCT planned
10	−	Mother	Missense	(Gly 49 Val)	3	51/4/24	In remission after chemotherapy USCT planned

ND indicates not done; PBSCT, peripheral blood stem cell transplantation; IVIG, intravenous immunoglobulins; EBV, Epstein-Barr virus; USCT, umbilical stem cell transplantation.

This case was previously published.8

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