Table 1

Characteristics of patients with CeD, RCDI and RCDII

CeD
(N=18)
RCDI
(N=7)
RCDII
(N=50)
Clinical features
Age, mean in years (range)42 (21–66)67 (46–80)57 (29–77)
Gender (F, %)14/18 (78%)6/7 (86%)32 (64%)
Time from CeD diagnosis to molecular evaluation, mean in years (range)5.9 (0–29)26.4 (3.2–62.9)5.4 (0.2–21.9)
Biological features
Histology
 Villous atrophy15/187/750/50
 Increased IEL13/147/750/50
 IEL with phenotype CD3+CD8-CD103+1/18*0/750/50
 Normal biopsy000/50
Flow cytometry (N=), small bowel biopsies13433
 % aberrant population in IEL (/CD45+)72% (23–98)
 % aberrant population in LPL (/CD45+)32% (5–70)
 % aberrant population in PBL (/CD45hi)7% (0–80)
TCR status (frozen biopsies)
 Gamma clonal0/180/748/50 (96%)†
 VDJ beta clonal0/70/715/49 (31%)
Mutational status (frozen biopsies)
JAK1/STAT3 mutations
0/180/738/50 (76%)
JAK10/180/724/50 (48%)
STAT30/180/719/50 (38%)
TET2 mutations0/180/715/50 (30%)
TNFAIP3/TNIP3 mutations0/180/710/46 (22%)
DDX3X mutations0/180/710/50 (20%)
  • *Increased polyclonal TCRγδ IEL in this case.

  • †Clonal TCRδ for two cases with polyclonal TCRγ.

  • CeD, coeliac disease ; RCDI, type I refractory CeD; RCDII, type II refractory CeD.