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Table 2 Literature search results

From: Neonatal Crohn’s disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report

PatientsAge/gender of onsetMutation gene/type site/amino acid changeClinical outcomeParent geneAuthor/
reference
130 d /femaleIL-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]
210 d /femaleIL-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]
31 d /femaleIL-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]
4Days /maleIL-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]
51 d /maleIL-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]
616 d /femaleIL-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]
7NR /maleIL-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]
8NR /maleIL-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]
94 d /femaleIL-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]
1014 d /maleIL-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]
1110 d /femaleIL-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]
1214 d /femaleIL-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]
139 d /maleIL-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]
14NR /femaleIL-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]
15NR /maleIL-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]
16NR /femaleIL-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]
17Neonate /maleIL-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]
184 months /femaleIL-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]
19More than 1 month /femaleIL-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]
20More than 1 month /maleIL-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]
21Neonate /maleIL-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]
225 years 9 months /femaleIL-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]
23NR /maleIL-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]
2410 d /femaleIL-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]
  1. IBD inflammatory bowel disease; CD Crohn’s disease; NR not recorded in detail; ND not detected; ED endoscope detection; HD histopathological detection; CRP C-reactive protein; ESR erythrocyte sedimentation rate; F father; M mother.; NR normal range