Table 1. Clinical presentation of... | Rockefeller University Press

Table 1.

Clinical presentation of TRAC-deficient patients

	This report		Garkaby et al. (4)	Morgan et al. (2)		Rawat et al. (3)
	Kindred A	Kindred B	Kindred C	Kindred D	Kindred E	Kindred F
	P1	P2	P3	P4	P5	P6	P7	P8
Mutation cDNA protein	c.192_205del, p.Trp65*	c.361C>T, p.Arg121*	c.347C>G, p.Ser116*	c.+1G>A, p.Trp107Leufs56
TCRα deficiency	Complete	Complete	Complete	Partial	Partial	Partial	Partial	Partial
Clinical diagnosis	SCID	SCID	SCID?	CID	CID	CID	CID	CID
Age at onset	20 days old	<1 mo old	-	15 mo old	6 mo old	3 mo old	6 mo old	<11 mo old
Clinical symptoms	Fever + myocarditis, BCG-osis, CMV infection	Chronic diarrhea, oral thrush, BCG-osis, pneumonia (Salmonella), failure to thrive	None, detection by newborn screening	Recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, and failure to thrive. Chronic course of varicella at age 6 as well as chronic EBV and human herpesvirus 6 viremia. Vitiligo and alopecia areata	Recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, and failure to thrive. Eczema and autoimmune hemolytic anemia. Pityriasis rubra pilaris	Recurrent respiratory tract infections, bronchiectasis, warts	Recurrent respiratory tract infections, bronchiectasis renal abscess, warts	Recurrent pneumonia, B cell lymphoma (EBV+)
Age at death or HSCT	HSCT at 22 mo	Death at 3 years old (pneumonia)	HSCT <1 year old	HSCT at 6 years old	HSCT at 7 years old	Death at 11 years old (severe pneumonia)	Death at 8 years old (pulmonary complications)	Death at 11 mo old
Outcome of HSCT	Successful	-	Successful	Successful	Successful	-	-	-
Other relevant information	None	Two siblings died of infection at 5 and 9 mo old, respectively	Sister died at 8 mo old with recurrent bacterial infections, oral thrush, diarrhea, and failure to thrive	None	None	None	None	None

	This report		Garkaby et al. (4)	Morgan et al. (2)		Rawat et al. (3)
	Kindred A	Kindred B	Kindred C	Kindred D	Kindred E	Kindred F
	P1	P2	P3	P4	P5	P6	P7	P8
Mutation cDNA protein	c.192_205del, p.Trp65*	c.361C>T, p.Arg121*	c.347C>G, p.Ser116*	c.+1G>A, p.Trp107Leufs56
TCRα deficiency	Complete	Complete	Complete	Partial	Partial	Partial	Partial	Partial
Clinical diagnosis	SCID	SCID	SCID?	CID	CID	CID	CID	CID
Age at onset	20 days old	<1 mo old	-	15 mo old	6 mo old	3 mo old	6 mo old	<11 mo old
Clinical symptoms	Fever + myocarditis, BCG-osis, CMV infection	Chronic diarrhea, oral thrush, BCG-osis, pneumonia (Salmonella), failure to thrive	None, detection by newborn screening	Recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, and failure to thrive. Chronic course of varicella at age 6 as well as chronic EBV and human herpesvirus 6 viremia. Vitiligo and alopecia areata	Recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, and failure to thrive. Eczema and autoimmune hemolytic anemia. Pityriasis rubra pilaris	Recurrent respiratory tract infections, bronchiectasis, warts	Recurrent respiratory tract infections, bronchiectasis renal abscess, warts	Recurrent pneumonia, B cell lymphoma (EBV+)
Age at death or HSCT	HSCT at 22 mo	Death at 3 years old (pneumonia)	HSCT <1 year old	HSCT at 6 years old	HSCT at 7 years old	Death at 11 years old (severe pneumonia)	Death at 8 years old (pulmonary complications)	Death at 11 mo old
Outcome of HSCT	Successful	-	Successful	Successful	Successful	-	-	-
Other relevant information	None	Two siblings died of infection at 5 and 9 mo old, respectively	Sister died at 8 mo old with recurrent bacterial infections, oral thrush, diarrhea, and failure to thrive	None	None	None	None	None