| | Study | Year | CTE number | Symptom | Extraintestinal symptoms | Gene mutation | Number | Treatment | Outcome |
| | Reifen et al. [13] | 1994 | 3 | Diarrhea, 2 vomit | NA | NA | NA | PN | 1 died | | Patey et al. [65] | 1997 | 6 | Diarrhea | Unknown | NA | NA | Unknown | Unknown | | Goulet et al. [21] | 1998 | 10 | Diarrhea | NA | NA | NA | Unknown | Unknown | | Beck et al. [61] | 2001 | 1 | Diarrhea | NA | NA | NA | PN, ITx | Alive | | Cameron and Barnes [59] | 2003 | 1 | Diarrhea | NA | NA | NA | PN | Alive | | Field [4] | 2003 | 1 | Diarrhea, vomit | NA | NA | NA | PN, ITx | Alive | | El-Matary et al. [18] | 2007 | 1 | Diarrhea, vomit | Skeletal dysplasia | NA | NA | PN | Alive | | Bird et al. [28] | 2007 | 3 | Diarrhea | Choanal atresia; ophthalmologic, hematologic, and hair abnormalities | NA | NA | Unknown | Unknown | | Sivagnanam et al. [7] | 2008 | 5 | Diarrhea | NA | EpCAM | 4 | PN | Unknown | | Al-Mayouf et al. [12] | 2009 | 4 | Diarrhea | Chronic arthritis | EpCAM | 1 | PN | 2 died | | Heinz-Erian et al. [2] | 2009 | 16 | Diarrhea | Corneal erosions, hypertelorism, choanal atresia, imperforate anus, rectovaginal fistula, short and brittle hair, and mild psychomotor delay | SPINT2 | 14 | PN | 11 died | | Sivagnanam et al. [14] | 2010 | 1 | Diarrhea, emesis | NA | EpCAM | 1 | PN | Unknown | | Ko et al. [15] | 2010 | 2 | Diarrhea, vomit | Oligoarticular juvenile rheumatoid arthritis | EpCAM | 2 | PN | Alive | | Roche et al. [6] | 2010 | 15 | Diarrhea | Ophthalmic functional disorders, asymptomatic conjunctival hyperemia | NA | NA | PN, ITx | Alive | | Salomon et al. [19] | 2010 | 11 | Diarrhea | NA | EpCAM | 7 | PN | Unknown | | Sivagnanam et al. [17] | 2010 | 1 | Diarrhea | Cholestatic liver disease | SPINT2 | 1 | PN | Alive | | Lemale et al. [66] | 2011 | 7 | Diarrhea | NA | NA | NA | PN | Alive | | Thoeni et al. [44] | 2013 | 1 | Diarrhea | NA | EpCAM | 1 | PN | Alive | | Slae et al. [29] | 2013 | 1 | Diarrhea | Choanal atresia, hyponatremia, and superficial punctate keratitis | SPINT2 | 1 | PN | Died | | Treetipsatit and Hazard [24] | 2014 | 3 | Diarrhea | NA | EpCAM | 2 | Unknown | Unknown | | Pêgas et al. [43] | 2014 | 1 | Diarrhea | NA | EpCAM | 1 | PN | Alive | | Martin et al. [67] | 2014 | 3 | Diarrhea | Unknown | EpCAM | 2 | Unknown | Unknown | | Salomon et al. [16] | 2014 | 57 | Diarrhea | Superficial punctuated keratitis, choanal atresia, other atresia, dermatological anomalies, and bone malformations | EpCAM
SPINT2 | 41
12 | PN, ITx | 8 died | | Mueller et al. [42] | 2014 | 1 | Diarrhea | NA | EpCAM | 1 | Unknown | Unknown | | Ranganathan et al. [62] | 2014 | 17 | Diarrhea | NA | NA | NA | PN, 5 IT | Alive | | Haas et al. [22] | 2016 | 2 | Diarrhea | NA | EpCAM | 2 | PN | Alive | | d’Apolito et al. [30] | 2016 | 4 | Diarrhea | Anal atresia | EpCAM
SPINT2 | 3
1 | PN, 3 ITx | 2 died | | Tang et al. [9] | 2016 | 1 | Diarrhea | NA | EpCAM | 1 | PN | Alive | | Azzopardi et al. [32] | 2016 | 1 | Diarrhea | Chronic arthritis | EpCAM | 1 | PN | Alive | | AlMahamed and Hammo [41] | 2017 | 4 | Diarrhea | NA | EpCAM | 4 | PN, 2 ITx | 2 died | | Bodian et al. [26] | 2017 | 2 | Diarrhea | NA | EpCAM | 1 | PN | 1 died | | Tan et al. [23] | 2017 | 1 | Diarrhea | NA | EpCAM | 1 | PN | Alive | | Shakhnovich et al. [25] | 2018 | 1 | Diarrhea, emesis | NA | EpCAM | 1 | PN | Alive | | Hirabayashi et al. [31] | 2018 | 1 | Diarrhea, vomit | Cleft lip and palate, corneal erosions, optic nerve coloboma, and intermittent exotropia | SPINT2 | 1 | PN | Alive | | Pathak et al. [60] | 2019 | 17 | Diarrhea | NA | EpCAM | 17 | PN | Alive | | Holt-Danborg et al. [52] | 2019 | 3 | Diarrhea | Choanal atresia, enterocutaneous fistula, atrial septal defect, cleft lip and palate, and toe abnormalities | SPINT2 | 3 | PN | Alive | | Total | | 204 | | | | | | |
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