Autoimmune hepatitis in genetic syndromes: A literature review

Table 2 Group-2: Polygenic involvement of immune-mediated risk (unbalanced genomic disease)

Genetic syndrome	Inheritance	Chromosomal region	Ref.	Number of AIH cases	Sex	Age at diagnosis	Deletion breakpoints [build GRCh37/hg19]	Outcome
Down syndrome	IC	-	Ravel et al[32], 2020	1	M	29 yr	-	Death
SMS	AD, IC	del17p11.2	Yang et al[36], 2014	1	F	24 yr	chr17: 16,660,721-20,417,975 dn	Alive
PHMDS	AD	del22q13.31-qter	Bartsch et al[37], 2010	1	F	3 yr	-	Alive
del2q	IC	del2q33.1-q34	Le Coz et al[6], 2018	1	F	12 yr	chr2:197,942,576–209,522,220 dn	Alive

AIH: Autoimmune hepatitis; IC: Isolated cases; AD: Autosomal dominant; F: Female; M: Male; SMS: Smith-Magenis syndrome.