Copyright
©The Author(s) 2021.
World J Hepatol. Oct 27, 2021; 13(10): 1328-1340
Published online Oct 27, 2021. doi: 10.4254/wjh.v13.i10.1328
Published online Oct 27, 2021. doi: 10.4254/wjh.v13.i10.1328
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 |
- Citation: Capra AP, Chiara E, Briuglia S. Autoimmune hepatitis in genetic syndromes: A literature review. World J Hepatol 2021; 13(10): 1328-1340
- URL: https://www.wjgnet.com/1948-5182/full/v13/i10/1328.htm
- DOI: https://dx.doi.org/10.4254/wjh.v13.i10.1328