Table 2 Literature search results
Patients | Age/gender of onset | Mutation gene/type site/amino acid change | Clinical outcome | Parent gene | Author/ reference |
|---|---|---|---|---|---|
1 | 30 d /female | IL-10RA / Homozygous c.537G > A / P.179 T > T | Clinical: Fever, diarrhea, bloody mucous stool, oral ulcers, anemia. ED: Scattered ulcers in colon and rectum. HD: Ulcers with chronic inflammatory cells and neutrophil infiltration. CRP: 71.4 mg/L; ESR: 58 mm/1 h | F: NR M: NR | Wang FP, et al. [2018] [6] |
2 | 10 d /female | IL-10RA / Homozygous c.301C > T / P.101R > W | Clinical: Fever, diarrhea, mucous stool, rectovaginal fistula, anemia, innutrition, hypoproteinemia. ED: Multiple ulcers and polyp in ileocecum, colon, and rectum; segment presentation. HD: Acute and chronic inflammatory cell infiltration and granulation tissue. CRP: 22.0 mg/L; ESR: 11 mm/1 h | F: NR M: NR | Wang FP, et al. [2018] [6] |
3 | 1 d /female | IL-10RA / Homozygous c.301C > T / P.101R > W | Clinical: Fever, diarrhea, perianal fistulas, anemia, innutrition, and hypoproteinemia. ED: Scattered ulcers in colon and rectum. HD: Acute and chronic inflammatory cell infiltration and mucosal erosive ulcer. CRP: 5.0 mg/L; ESR: 34 mm/1 h | F: NR M: NR | Wang FP, et al. [2018] [6] |
4 | Days /male | IL-10RB / Compound heterozygous mutation c. 301 C > T / P. 101R > w c.537 G > A / P.179 T > T | Clinical: Fistulas fever, diarrhea, perianal ulcer, anemia, innutrition, hypoproteinemia. ED: Irregular ulcers and false polyps in ileocecum, colon, and rectum. HD: Acute and chronic inflammatory cell infiltration with crypt inflammation and crypt abscess. CRP: 68.7 mg/L; ESR: 17 mm/1 h | F: NR M: NR | Wang FP, et al. [2018] [6] |
5 | 1 d /male | IL-10RA / Compound heterozygous mutation c. 301 C > T / P. 101R > w c.350G > A / P. 117 R > H | Clinical: Fever, diarrhea, oral ulcer, anemia, perianal neoplasm, innutrition, hypoproteinemia. ED: Scattered ulcers in colon and rectum. HD: Acute and chronic inflammatory cell infiltration with ulcer and crypt abscess. CRP: 23.1 mg/L; ESR: ESR:29 mm/1 h | F: NR M: NR | Wang FP, et al. [2018] [6] |
6 | 16 d /female | IL-10RA / Compound heterozygous mutation c. 301 C > T / P. 101R > w c.299 T > G / P. 100 V > G | Clinical: Fever, diarrhea, bloody purulent stool, perianal fistulas, anemia, innutrition, hypoproteinemia. ED: Scattered ulcers in colon and rectum. HD: Acute and chronic inflammatory cell infiltration with crypt inflammation and crypt abscess. CRP: 27.9 mg/L; ESR: 65 mm/1 h | F: NR M: NR | Wang FP, et al. [2018] [6] |
7 | NR /male | IL-10RA / Compound heterozygous mutation c. 537G > A / P. C 223 S c.668G > C | Clinical: Fever, diarrhea, bloody purulent stool, erythra in eye lid and back. ED: NR HD: NR. CRP: NR; ESR: NR | F: NR M: NR | Lu D, et al. [2015] [7] |
8 | NR /male | IL-10RA / Compound heterozygous mutation c. 537G > A / P. C 223 S c.668G > C | Clinical: Mucosanguineous feces, perianal abscesses, neoplasm. ED: NR HD: NR CRP: NR; ESR: NR | F: NR M: NR | Lu D, et al. [2015] [7] |
9 | 4 d /female | IL-10RA / Compound heterozygous mutation c. 421G > A / P. 141G > W c.301C > T / P.101 R > W | Clinical: Fever, diarrhea, bloody stool, oral ulcers, anal fissure, hypoproteinemia, hepatosis ED: Extensive ulcers in colon, ileocecal erosion. HD: chronic inflammatory infiltration with crypt inflammation. CRP: +; ESR: - | F: NR M: NR | Jiang Y, et al. [2017] [8] |
10 | 14 d /male | IL-10RA / Homozygous c.537 G > A / P.179 T > T | Clinical: Fever, diarrhea, bloody stool, oral ulcer. ED: Ulcers in colon. HD: Diffuse lymphocytic infiltration in ulcer. CRP: -; ESR: + | F: NR M: NR | Jiang Y, et al. [2017] [8] |
11 | 10 d /female | IL-10RA / Compound heterozygous mutation c. 493C > T / P. 165R > X c.301C > T / P.101 R > W | Clinical: Fever, diarrhea, mucous bloody stool, anal fissure, Perianal lesion, erythra, hepatosis. ED: Extensive ulcers from colon ascending to the rectum. HD: chronic inflammatory with crypt inflammation and perianal neoplasm CRP: +; ESR: - | F: NR M: NR | Jiang Y, et al. [2017] [8] |
12 | 14 d /female | IL-10RA / Compound heterozygous mutation c. 537G > A / P. 179 T > T c.301C > T / P.101 R > W | Clinical: Fever, diarrhea, bloody stool, oral ulcers, anal fissure, perianal fistulas. ED: Extensive ulcers in colon, ileocecal terminal erosion. HD: Acute and chronic inflammatory cell infiltration with crypt inflammation and crypt abscess. CRP: +; ESR: - | F: NR M: NR | Jiang Y, et al. [2017] [8] |
13 | 9 d /male | IL-10RA / Compound heterozygous mutation c. 537G > A / P. 179 T > T c.301C > T / P.101 R > W | Clinical: Fever, diarrhea, bloody stool, oral ulcer, perianal neoplasm. ED: Ulcers in transverse colon. HD: Chronic inflammation of small and large intestine mucosa with crypt inflammation. CRP: +; ESR: - | F: NR M: NR | Jiang Y, et al. [2017] [8] |
14 | NR /female | IL-10RA / Compound heterozygous mutation c. 301C > T / P.R101 W C.350G > A / P.R 117 H | Clinical: Diarrhea, perianal fistulas. ED: NR. HD: NR. CRP: NR; ESR: NR | F: NR M: NR | Shim JO, et al. [2013] [9] |
15 | NR /male | IL-10RA / Compound heterozygous mutation c. 272A > G / P.Y91C C.784C > A / R 262 C | Clinical: Diarrhea, perianal fistulas, intestinal fistula. ED: NR. HD: NR. CRP: NR; ESR: NR | F: NR M: NR | Shim JO, et al. [2013] [9] |
16 | NR /female | IL-10RA/Compound heterozygous mutation c. 272A > G / P.Y91C C.301 C > T /.R 101 W | Clinical: Diarrhea, perianal fistulas, intestinal fistula. ED: NR. HD: NR. CRP: NR; ESR: NR | F: NR M: NR | Shim JO, et al. [2013] [9] |
17 | Neonate /male | IL-10RA / Homozygous c. 537G > A / P. 179 T > T c.301C > T / P.101 R > W | Clinical: Fever, diarrhea, bloody stool, anal fissure, perianal abscesses, skin infections. ED: Irregular ulcers and polyps in colon. HD: Inflammatory cell infiltration with ulcer. CRP: NR; ESR: NR | F: Homozygous C.737G > A M: NR | Fang YH, et al. [2018] [10] |
18 | 4 months /female | IL-10RA / Homozygous c. 301C > T / P.R101W c.537G > A / PT179 T | Clinical: Fever, diarrhea, mucous bloody stool, perianal fistulas. ED: Many ulcers and a cobblestone-like vegetation in colon. HD: Inflammatory cell infiltration in ulcer. CRP: NR; ESR: NR | F: Homozygous C.737G > A M: Homozygous P > T179 T | Fang YH, et al. [2018] [10] |
19 | More than 1 month /female | IL-10RA / Homozygous C. 301C > T / P.R101W c. 470A > G / P.Y157C | Clinical: Diarrhea, mucous bloody stool, perianal fistulas, oral ulcer, innutrition, hypoevolutism. ED: Colon ulcers. HD: ND CRP: NR; ESR: NR | F: Homozygous C.301C > T M: Homozygous C.470A > G | Fang YH, et al. [2018] [10] |
20 | More than 1 month /male | IL-10RA / Homozygous C. 301C > T / P.R101W | Clinical: Bloody stool, erythra, repeated perianal abscess, innutrition. ED: Irregular ulcers and polyps in colon sigmoideum and rectum. HD: NR CRP: NR; ESR: NR | F: Homozygous C.301C > T M: NR | Fang YH, et al. [2018] [10] |
21 | Neonate /male | IL-10RA / Compound heterozygous mutation C. 301C > T / P.R101W C.350G > A / P.R117H | Clinical: Bloody stool, perianal fistulas, necrotizing enterocolitis, innutrition. ED: Many ulcers in rectum and polyps in colon. HD: ND. CRP: NR; ESR: NR | F: Compound heterozygous mutation C. 301C > T /P.R101W C.350G > A/P.R117H M: NR | Fang YH, et al. [2018] [10] |
22 | 5 years 9 months /female | IL-10RB / heterozygous c.421G > A / P.141 K | Clinical: NR. ED: NR. HD: NR CRP: NR; ESR: NR | F: Heterozygous C.421G > A M: NR | Fang YH, et al. [2018] [10] |
23 | NR /male | IL-10RA / NR c.537G > A / P.T179 T | Clinical: Diarrhea, bloody stool, perinanal fistulas, oral ulcers, epifolliculitis. ED: Longitudinal ulcers in colon. HD: NR. CRP: NR; ESR: NR | F: NR M: NR | Yanagi T, et al. [2016] [11] |
24 | 10 d /female | IL-10RA / Compound heterozygous mutation c. 301C > T / Arg101Frp c.537G > A / P.Tnr179 = | Clinical: Oral ulcers, fever, rash, perianal masses, perianal pyoderma, anemia, innutrition, hypoproteinemia, hepatosis. ED: ND. HD: ND CRP: 80.86 mg/L; ESR: 4 mm/1 h | F: Heterozygous C.301C > T/ Arg101Frp M: Heterozygous C.537G > A/ P.Tnr179 = | [This report] |