Table 1 Clinical characteristics of... | American Society of Hematology

Table 1

Clinical characteristics of XLF-deficient patients

Patient	Mutation allele 1	Allele 2	Microcephaly	Growth retardation	Infections	Autoimmunity	Outcome
P1⁷	p.R57G	p.C123R	+	+	Bacterial and opportunistic	+	Died at 18 y: septic shock
P2⁷	p.R178X	p.R178X	+	+	Bacterial and opportunistic	−	Died at 4 y: septic shock
P3⁷	c.177delC, c.177+3A>T	c.177delC, c.177+3A>T	+	+	Bacterial and opportunistic	+	Alive: 14 y
P4⁷	c.177delC, c.177+3A>T	c.177delC, c.177+3A>T	+	+	Bacterial and opportunistic	−	Alive: 3 y
P5⁷	p.R57G	p.R57G	+	+	Recurrent respiratory tract	−	Alive: 9 y old
P6³⁸	p.Y167X	p.Y167X	+	ND	ND	ND	ND
P7³⁸	p.R57X	p.R57X	+	ND	ND	ND	ND
P8^38,39	g.del ex2-5	g.del ex2-5	+	+	ND	ND	ND
2BN⁶	p.E5GfsX44	p.E5GfsX44	ND	ND	ND	ND	Received SCT
P1¹⁸	p.R57G	p.R57G	+	+	Recurrent respiratory tract	−	Alive: 12 y
P2¹⁸	p.D166RfsX2	1.9kb deletion	+	+	Urinary tract	−	Alive: 6 y
P3¹⁸	p.D166RfsX2	1.9kb deletion	−	+	Recurrent respiratory tract	−	Alive: 2 y
P4¹⁸	p.R176X	6.9kb deletion	+	+		−	Alive: 8 y
P5¹⁸	p.R178X	p.R178X	+	+	Mouth lesions	+	Died at 1.5 y: septic shock
Patient³⁷	p.R178X	p.R178X	+	+	Recurrent perianal abscess		Alive: 3 y: SCT planned
XLF1	p.Y167X	p.Y167X	+	+	Recurrent respiratory tract	−	Alive: SCT at 8 y
XLF2	p.R178X	p.R178X	+	+	Diarrhea	−	Alive: SCT at 1.5 mo
XLF3	p.R57X	p.R57X	+	+	Urinary and respiratory tract	+	Alive: SCT at 15 mo
XLF4	p.R178X	p.R178X	+	+	Respiratory tract	−	Alive SCT at 10 y
XLF5	p.R109AfsX3	p.R109AfsX3	+	+			Alive 8 y: SCT planned
XLF6-1	p.R178X	p.R178X	+	+	Recurrent respiratory fungal	−	Alive 2 y: SCT planned
XLF6-2	p.R178X	p.R178X	+	+	Recurrent respiratory tract	−	Alive 8 y: SCT planned
XLFP1	p.R178X	p.R178X	+	+	Diarrhea, respiratory tract	−	Alive: SCT at 9 y
XLFP2	p.R178X	p.R178X	+	+	Opportunistic (BCGitis) and bacterial (otitis)	+	Alive: SCT at 12 mo

Patient	Mutation allele 1	Allele 2	Microcephaly	Growth retardation	Infections	Autoimmunity	Outcome
P1⁷	p.R57G	p.C123R	+	+	Bacterial and opportunistic	+	Died at 18 y: septic shock
P2⁷	p.R178X	p.R178X	+	+	Bacterial and opportunistic	−	Died at 4 y: septic shock
P3⁷	c.177delC, c.177+3A>T	c.177delC, c.177+3A>T	+	+	Bacterial and opportunistic	+	Alive: 14 y
P4⁷	c.177delC, c.177+3A>T	c.177delC, c.177+3A>T	+	+	Bacterial and opportunistic	−	Alive: 3 y
P5⁷	p.R57G	p.R57G	+	+	Recurrent respiratory tract	−	Alive: 9 y old
P6³⁸	p.Y167X	p.Y167X	+	ND	ND	ND	ND
P7³⁸	p.R57X	p.R57X	+	ND	ND	ND	ND
P8^38,39	g.del ex2-5	g.del ex2-5	+	+	ND	ND	ND
2BN⁶	p.E5GfsX44	p.E5GfsX44	ND	ND	ND	ND	Received SCT
P1¹⁸	p.R57G	p.R57G	+	+	Recurrent respiratory tract	−	Alive: 12 y
P2¹⁸	p.D166RfsX2	1.9kb deletion	+	+	Urinary tract	−	Alive: 6 y
P3¹⁸	p.D166RfsX2	1.9kb deletion	−	+	Recurrent respiratory tract	−	Alive: 2 y
P4¹⁸	p.R176X	6.9kb deletion	+	+		−	Alive: 8 y
P5¹⁸	p.R178X	p.R178X	+	+	Mouth lesions	+	Died at 1.5 y: septic shock
Patient³⁷	p.R178X	p.R178X	+	+	Recurrent perianal abscess		Alive: 3 y: SCT planned
XLF1	p.Y167X	p.Y167X	+	+	Recurrent respiratory tract	−	Alive: SCT at 8 y
XLF2	p.R178X	p.R178X	+	+	Diarrhea	−	Alive: SCT at 1.5 mo
XLF3	p.R57X	p.R57X	+	+	Urinary and respiratory tract	+	Alive: SCT at 15 mo
XLF4	p.R178X	p.R178X	+	+	Respiratory tract	−	Alive SCT at 10 y
XLF5	p.R109AfsX3	p.R109AfsX3	+	+			Alive 8 y: SCT planned
XLF6-1	p.R178X	p.R178X	+	+	Recurrent respiratory fungal	−	Alive 2 y: SCT planned
XLF6-2	p.R178X	p.R178X	+	+	Recurrent respiratory tract	−	Alive 8 y: SCT planned
XLFP1	p.R178X	p.R178X	+	+	Diarrhea, respiratory tract	−	Alive: SCT at 9 y
XLFP2	p.R178X	p.R178X	+	+	Opportunistic (BCGitis) and bacterial (otitis)	+	Alive: SCT at 12 mo

ND, not described.

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