Autoimmune hepatitis in genetic syndromes: A literature review

Table 3 Group-3: Association not directly related to the disease causative mutation

Genetic syndrome	Inheritance	Gene	Ref.	Number of AIH cases	Sex	Age at diagnosis	Nucleotide variant	Protein variant	Outcome
NS	AD	PTPN11	Quaio et al[38], 2012	1	M	19 yr	c.[836A>G];[=]	p.[(Y279C)];[(=)]	Alive
			Loddo et al[5], 2015	1	F	6 yr	c.[923A>G];[=]	p.[(N308S)];[(=)]	Alive
WD	AR	ATP7B	Ganesh et al[40], 2017	1	M	6 yr	c.[2906G>A];[2906G>A]	p.[(R969Q)];[(R969Q)]	Alive
			Santos et al[41], 2019	1	F	25 yr	N.R.	N.R.	Alive
H syndrome	AR	SLC29A3	Bloom et al[42], 2017	1	M	17 mo	c.[1087C>T];[1087C>T]	p.[(R363W)];[(R363W)]	Alive
FHL5	AR	STXBP2	Esmaeilzadeh et al[43], 2015	1	M	7 yr	c.[1247-1G>C];[1247-1G>C]	p.[(?)];[(?)]	Death
TSC	AD	TSC1	Di Marco et al[44], 2017	1	F	47 yr	c.[682C>T];[=]	p.[(R228*)];[(=)]	Alive
SCD	AR	HBB	Jitraruch et al[45], 2017	7	F; M; M; F; F; F; F	5 yr; 16 yr; 13 yr; 13 yr; 8 yr; 8 yr; 3 yr	c.[20A>T];[20A>T]	p.[(E7V)];[(E7V)]	Alive; Alive; Death; Alive; Alive; Alive; Death
			Zellos et al[46], 2010	1	F	25 yr	c.[20A>T];[20A>T]	p.[(E7V)];[(E7V)]	Death
			Hurtova et al[47], 2011	1	F	54 yr	c.[20A>T];[20A>T]	p.[(E7V)];[(E7V)]	Death
GD	AR	GBA	Ayto et al[48], 2010	1	F	51 yr	c.[1226A>G];[115+1G>A]	p.[(N409S)];[(?)]	Death
PLCA	AD	-	González-Moreno et al[50], 2015	1	M	36 yr	NR	NR	Alive
			Yan and Jin[49]	1	F	50 yr	NR	N.R.	Alive
PFIC3	AR	ABCB4	Oliveira et al[51], 2017	1	M	22 yr	c.[874A>T];[3680T>C]	p.[(K292*)];[(I1227T)]	Alive

AIH: Autoimmune hepatitis; AD: Autosomal dominant; AR: Autosomal recessive; F: Female; M: Male; NR: Not reported; NS: Noonan syndrome; WD: Wilson disease; FHL: Familial hemophagocytic lymphohistiocytosis; TSC: Tuberous syndrome; SCD: Sickle cell disease; GD: Gaucher disease; PLCA: Primary cutaneous amyloidosis; PFIC3: Progressive familiar intrahepatic cholestasis type 3.