Table 5.1.
Identified mutations in IL10RA, IL10RB, and IL10 leading to infantile and very early onset IBD
| Mutation | Clinical manifestation | Age of onset |
References |
|---|---|---|---|
| IL10R1: p.G141R (homozygous)a |
Severe enterocolitis, enterocutaneous fistulas, Perianal abscesses, chronic folliculitis |
<1 year | Glocker et al. (2009) |
| IL10R1: p.T84I (homozygous)a |
Severe pancolitis | 3 months | Glocker et al. (2009) |
| IL10R1: p.R101W (homozygous)a |
Severe and progressive colitis |
< 3 months | Kotlarz et al. (2012) |
| IL10R1: p.I169T | Severe and progressive colitis, folliculitis, atopic dermatitis |
< 3 months | Kotlarz et al. (2012) |
| IL10R1: p.I169T (homozygous) |
Severe and progressive colitis, folliculitis, atopic dermatitis |
< 3 months | Kotlarz et al. (2012) |
| IL10R1: p.R262C (homozygous) |
Pancolitis, perianal disease, no small intestinal inflammation, but granulomas present |
1 month | Begue et al. (2011) |
| IL10R1: p.P206X (homozygous mutation in 5′ splice donor site, leading to premature stop codon) |
Fevers, skin folliculitis, bloody diarrhea and colonic erosions, perianal disease with fistula, joint effusions |
< 5 months | Moran et al. (2013) |
| IL10R1: p.G125R (homozygous)a,b |
Severe colitis. Both patients had family members with fatal infantile colitis |
1 month | Engelhardt et al. (2013) |
| IL10R1: p.L125R (homozygous)a |
Severe colitis, recurrent infections |
1 month | Engelhardt et al. (2013) |
|
IL10RA: Ex1_3del (homozygous deletions) |
Severe colitis, enteritis, otitis media, urinary tract infections. Cousin with neonatal onset diarrhea, died in infancy |
2 months | Engelhardt et al. (2013) |
| IL10R1: p.Y57Y; p.V23fsX31 (compound heterozygote) |
Colitis, sinusitis | 3 months | Engelhardt et al. (2013) |
| IL10R1: p.T84I; p.R101W (compound heterozygote) |
Neonatal onset CD with severe growth failure and nonspecific inflammation from rectum to descending colon |
<2nd week of life |
Mao et al. (2012) |
| IL10R1: pY57C; R117C (compound heterozygote) |
Severe and progressive colitis, arthralgia, arthritis, Kawasaki disease |
<3 months | Kotlarz et al. (2012) |
| IL10R2: p.W159X (homozygous)c,d |
Proctitis, folliculitis, perianal abscesses, recurrent infections, impaired wound healing, multiple enterocutaneous fistulas. |
3 months |
Glocker et al. (2009) and Kotlarz et al. (2012) |
| IL10R2: p.C66Y | Severe and progressive colitis, folliculitis |
<3 months | Kotlarz et al. (2012) |
| IL10R2: p.R117H (homozygous) |
Severe colitis, recurrent ear infections, oral ulcers, toxic megacolon, perforation, peritonitis. Brother died of severe enteropathy |
3½ years old |
Engelhardt et al. (2013) |
| IL10R2: p.G193R (homozygous) |
Intestinal adhesions, colitis, fatal septicemia. Had two siblings with fatal colitis |
10 days | Engelhardt et al. (2013) |
|
IL10RB: c.C52T (in 3′ UTR) (homozygous) |
Severe progressive colitis, folliculitis |
<3 months | Kotlarz et al. (2012) |
| IL10R2: p.W204X; p.S230X (compound heterozygote) |
Severe and progressive colitis, dermatitis |
<3 months | Kotlarz et al. (2012) |
| IL10R2: p.W204X (homozygous) |
Severe and progressive colitis, folliculitis |
< 3 months | Kotlarz et al. (2012) |
| IL10R2: p.E141X (homozygous) |
Pancolitis, perianal lesions, no small intestinal inflammation, but granulomas |
3 months | Begue et al. (2011) |
|
IL10RB c.331+907_574del (homozygous deletion) |
Severe and progressive colitis, folliculitis |
< 3 months | Kotlarz et al. (2012) |
| IL10R2 deletion p. W18fsX29 (homozygous) |
Colitis, recurrent otitis media |
1 month | Engelhardt et al. (2013) |
| IL10R2: p.L59fsX72 (homozygous) |
Severe colitis, bronchitis, oral ulcers, gingivitis. Two siblings and an uncle with fatal colitis |
1 month | Engelhardt et al. (2013) |
| IL10: p.G153N (homozygous)c |
Severe and progressive colitis |
< 3 months | Kotlarz et al. (2012) |
| IL10: p.G113R (homozygous)b,c,d |
Bloody diarrhea. Female afflicted with perianal, rectovaginal fistulas |
3 and 11 months |
Glocker et al. (2010) |
a
Underwent HSCT with clinical remission.
b
Identified in two patients.
c
Identified in three patients.
d
Two patients underwent HSCT, both with clinical remission.