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Table 2 Characteristics of the antibody-positive patients

From: Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

  Age (y.) Mutation ERT Ab Titer ag. alfa Ab Titer ag. beta IgG1 IgG2 IgG3 IgG4 RRA alfa RRA beta lysoGb3 (ng/ml) Renal event Clinical phenotype MSSI
Exposure Total Cardio-vasc General Neuro Renal
Type Time (months)
1 M 43.8 c.233C>G p.Ser78* B 182.0 1,638,400 1,638,400 ++++ ++++ ++++ ++++ 4% 1% 41.0 yes Classic 45 15 7 5 18
2 M 33.4 c.847C>T p.Gln283* B 159.3 1,638,400 1,638,400 +++ ++++ ++++ ++++ 42% 32% 48.0   Classic 14 9 2 3 0
3 M 47.7 c.522T>A p.Cys174* B 3.2 1,638,400 1,638,400 ++++ +++ +++ + 20% 17% 21.7   Classic 12 0 4 0 8
4 M 46.1 c.901C>T p.Arg301* A 78.2 819,200 819,200 ++++ ++++ ++++ ++++ 41% 35% 60.0   Classic 28 3 11 14 0
5 M 33.2 c.548G>C p.Gly183Ala A/B 157.4 1,638,400 1,638,400 ++++ ++++ + ++++ 20% 20% 76.0   Classic 11 0 9 2 0
6 M 43.3 c.169C>T p.Gln57* A/B 170.4 819,200 819,200 ++++ ++++ ++++ ++++ 3% 4% 31.3 yes Classic 45 17 4 6 18
7 M 47.3 c.847C>T p.Gln283* B 156.2 819,200 819,200 ++++ ++++ ++ ++++ 46% 36% 25.4   Classic 12 10 2 0 0
8 M 50.6 c.802-3_802-2del unknown B 16.0 204,800 204,800 ++++ ++ +++ ++++ 98% 76% na   Classic 38 18 5 7 8
9 M 32.7 c.884T>G p.Phe295Cys B 46.6 102,400 102,400 ++++ no no no mig mig 10.0 yes Classic 29 0 2 9 18
10 M 59.1 c.758T>C p.Ile253Thr A 7.8 102,400 102,400 ++++ no ++ ++ 75% 61% 10.8   Non classic 23 13 1 1 8
11 M 17.5 c.902G>A p.Arg301Gln B 5.1 102,400 102,400 ++++ ++ + ++++ 40% 29% NA   Classic 14 0 6 8 0
12 M 27.7 c.901C>T p.Arg301* A/B 69.3 25,600 12,800 +++ +++ ++ ++++ 54% 38% 48.8   Classic 19 2 6 11 0
13 M 52.1 c.798T>A p.Asp266Glu A/B 116.1 12,800 12,800 ++++ ++ ++ no 99% 103% na yes Classic 34 0 8 8 18
14 M 49.8 c.847C>T p.Gln283* B 133.5 1600 1600 ++++ + + no 144% 115% 84.2 yes Classic 31 7 4 2 18
15 M 41.1 c.1069_1079del p.Gln357Trpfs*14 A/B 146.3 800 800 no no +++ ++++ 142% 100% 18.9   Classic 24 2 9 5 8
16 M 31.9 c.875C>T p.Ala292Val A 135.7 800 800 +++ no ++ ++++ 114% 93% 15.0   Classic 8 3 2 3 0
17 M 51.0 c.798T>A p.Asp266Glu A 120.5 400 400 + no no no 136% 106% na yes Classic 33 0 5 10 18
18 M 27.9 c.729G>C p.Leu243Phe A/B 151.0 100 100 no no ++ no 141% 110% na   Classic 18 0 4 14 0
19F 65.3 c.695T>C p.Ile232Thr A 1.8 6400 6400 no no + no 120% 110% 1.5   NA 19 15 4 0 0
20F 43.2 c.486G>C p.Trp162Cys B 10.2 12,800 50 + no no no 126% 113% 4.3   NA 13 0 1 8 4
  1. RRA was considered not informative in the patient #9 under migalastat (mig)
  2. M males, F female, A agalsidase alfa, B agalsidase beta, na not available, NA not applicable; Ab titers observed against agalsidase alfa (ag. alfa) or beta (ag. beta); Renal event defined as estimated glomerular filtration rate below 15 ml/min/1.73m2 and/or kidney transplant and/or dialysis; MSSI Mainz Severity Score Index with total, cardiovascular (cardio-vasc), general, neurological (neuro) and renal scores
  3. *Non-sense mutations