Autoimmune hepatitis in genetic syndromes: A literature review

Table 1 Group-1: Disease gene is one of immunoregulatory genes

Genetic syndrome	Inheritance	Gene	Ref.	Number of AIH cases	Sex	Age at diagnosis	Nucleotide variant	Protein variant	Outcome
APECED/APS1	AD, AR	AIRE	Meloni et al[17], 2017	6	F; F; F; F; F; M	3 yr; 6 yr; 11 yr; 5 yr; 8 yr; 12 yr	c.[415C>T];[415C>T]	p.[(R139X)];[(R139X)]	Alive; Alive; Death; Death; Alive; Alive
			Huibregtse et al[7], 2014	1	F	10 yr	c.[20_115de196];[967_979del13]	p.[(?)];[(?)]	Alive
			Zaidi et al[18], 2017	2	M; M	3 yr; 5 yr	NR	NR	Alive; Death
IPEX	XLR	FOXP3	López et al[21], 2011	1	M	4 yr	c.[748-750delAAG];[0]	p.[(250Kdel)];[(0)]	Alive
			Baris et al[22], 2014	1	M	3 yr	c.[816+5G>A];[0]	p.[(?)];[(0)]	Death
			Magg et al[23], 2018	1	M	3 yr	c.[816+2T>A];[0]	p.[(?)];[(0)]	Death
			Duclaux-Loras et al[20], 2018	3	M; M; M	4 wk; 4 wk; 3 wk	c.[751_753delGAG]];[0]; c.[1157G>A];[0]; c.[227delT];[0]	p.[(E251del)];[(0)]; p.[(R386H)];[0]; p.[(L76Qfs*53)];[(0)]	Death; Death; Alive
ICF2	AR	ZBTB24	von Bernuth et al[25], 2014	1	F	3 yr	c.[1222T>G];[1222T>G]	p.[(C408G)];[(C408G)]	Alive (not responding to therapy)
ICF1	AR	DNMT3B	Sterlin et al[24], 2016	1	M	5 yr	c.[2324C>T];[2324C>T]	NR	Alive
SPENCDI	AR	APC5	Briggs et al[26], 2016	3	F; F; F	9 yr; 3 yr; 6 mo	c.[725A>G];[725A>G]; c.[389+1G>A];[389+1G>A]; c.[131C>T];[712T>C]	p.[(H242R)];[(H242R)]; p.[(?)];[(?)]; p.[(T44M)];[(C238R)]	Alive; Alive; Alive
SDS	AR	SBDS	Veropalumbo et al[28], 2015	2	NR; NR	9 mo; 12 mo	c.[258+2T];[183-1847A>CT]; c.[258+2T>C];[183-184TA>CT]	p.[(?)];[(?)]; p.[(?)];[(?)]	Alive; Alive
SCID	AR	CD3γ	Tokgoz et al[30], 2013	1	F	12 yr	c.[IVS2-1G>C];[IVS2-1G>C]	p.[(?)];[(?)]	Alive

AIH: Autoimmune hepatitis; AD: Autosomal dominant; AR: Autosomal recessive; XLR: X-linked recessive; F: Female; M: Male; NR: Not reported; SDS: Shwachman-Diamond syndrome; SCID: Severe combined immunodeficiency; SPENCDI: Spondilocondrodisplasia; ICF: Immunodeficiency, centromeric instability and facial dysmorphism; IPEX: Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome; APECED: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; APS1: Autoimmune polyglandular syndrome type 1.