Table 2. Comparison of patients with HIDS of our cohort across different population groups.
| Reference | Haar et al. 2016 [7] | Hilst et al. 2008 [8] | Doglio et al. 2013 [42] | Bader-Meunier et al. 2011 [44] | D’Osualdo et al. 2005 [12] | Frenkel et al. 2001 [45] | Tanaka et al. 2019 [46] | Stabile et al. 2013 [43] | Lainka et al. 2012 [47] | |
|---|---|---|---|---|---|---|---|---|---|---|
| Population | Mainly European | Mainly European | Italian | French and Belgian | Italian | Dutch | Japanese | Italian | German | Present study |
| Number of Patients | 114 | 103 | 56 | 50 | 15 | 14 | 10 | 10 | 8 | 10 |
| Gender | 53M 61F | 52M 51F | 29M 27F | 21M 29F | 9M 6F | 9M 5F | 4M 6F | 4M 6F | 4M 4F | 5M 5F |
| Average Age (years) | NA | 19 (2–74) | 13.3 ± 8.5 | 21.6 (1–58) | 10 (2–27) | 9.4 (2–20) | 8.3 (0.6–15.3) | NA | 7 (2–14) | 6.45 (1.5–15) |
| Disease onset (months) | 6 | 6 (0–10) | 10.5 ± 15.3 (1–108) | 24.5 (0.03–504) | 10 (1–24) | 15 (0–160) | 1 (0–3) | 42.6 (2–110) | 13.5 (12–24) | 6.23 (0.5–24) |
| Duration of fever (days) | 4 | NA | NA | 3.7 (1–10) | 4.5 (3–7) | 4 (3–7) | 4 to 7 | 5 | 5.5 (3–12) | 3–7 |
| Number of spikes/year | 11 to 15 | 7 to > 12 | 13.8 ± 5.4 (3–30) | NA | 12.5 (10–18) | 16 (6–26) | 7 to 11 | NA | 4–52 | 20 (12–24) |
| Ulcers n/m (%) | 18/114 (16) | 50/103 (48.5) | NA | 8/49 (16.3) | NA | NA | NA | 6/10 (60) | 2/8 (25) | 6/10 (60) |
| Chills n/m (%) | NA | 65/103 (62.7) | NA | NA | 6/15 (40) | 6/14 (35.7) | NA | NA | NA | NA |
| Fever on vaccination n/m (%) | 38/99 (38.3) | NA | NA | NA | NA | 13/14 (92.8) | NA | NA | NA | 4/10 (40) |
| Abdominal pain n/m (%) | 98/111 (88.2) | 88/103 (85.4) | NA | 30/49 (61.2) | 15/15 (100) | 12/14 (85.7) | 4/10 (40) | 9/10 (90) | 8/8 (100) | 4/10 (40) |
| Diarrhoea n/m (%) | 93/111 (83.7) | 74/103 (71.6) | NA | 34/49 (69.3) | 12/15 (80) | 12/14 (85.7) | 6/10 (60) | NA | 6/8 (75) | 10/10 (100) |
| Vomiting n/m (%) | 76/110 (69) | 73/103 (70.9) | NA | 21/49 (42.8) | NA | 11/14 (78.5) | 6/10 (60) | NA | 6/8 (75) | 3/10 (30) |
| Arthralgia n/m (%) | 80/113 (70.7) | 86/103 (83.5) | NA | 33/49 (67.3) | 12/15 (80) | 12/14 (85.7) | 2/10 (20) | 9/10 (90) | 4/8 (50) | NA |
| Arthritis n/m (%) | 31/109 (28.4) | 57/103 (55.3) | NA | 20/49 (40.8) | NA | 4/14 (28.5) | 2/10 (20) | NA | NA | 6/10 (60) |
| Myalgia n/m (%) | 64/112 (57.1) | NA | NA | 10/49 (20.4) | 9/15 (60) | NA | NA | NA | 2/8 (25) | 6/8 (75) |
| Rash n/m (%) | 43/111 (38.7) | NA | NA | 23/35 (65.7) | 7/15 (46.6) | 11/14 (78.5) | 9/10 (90) | 5/10 (50) | 5/8 (62.5) | 9/10 (90) |
| Lymphadenopathy n/m (%) | 96/113 (84.9) | 90/103 (87.4) | NA | 35/49 (71.4) | 15/15 (100) | 12/14 (85.7) | 7/10 (70) | 10/10 (100) | 7/8 (87.5) | 8/10 (80) |
| Splenomegaly n/m (%) | NA | 34/103 (32.4) | NA | 31/49 (63.2) | 8/15 (53.3) | 7/14 (50) | 3/10 (30) | NA | NA | 10/10 (100) |
| MVK mutation n/m (%) | 114/114 (100) | 103/103 (100) | 100 | 49/50 (98) | 15/15 (100) | 11/14 (78.5) | 5/10 (50) | 7/10 (70) | 8/8 (100) | 9/10 (90) |
| Recurrent Mutation V377I n/m (%) | 96/114 (84.2) | 52/103 (50) | 42/56 (75) | 36/49 (73) | 12/15 (80) | 11/11 (100) | NA | 2/7 (28.5) | 6/8 (75) | 5/10 (50) |
| Second Recurrent Mutation n/m (%) | 29/114 (25.4) I268T | 15/103 (14.7) I268T | NA | 8/49 (16.3) I268T | 4/15 (26.6) I268T | 4/11 (36.4) I268T | NA | 5/7 (71.4) I268T | 2/8 (25) I268T, 2/8 (25) R277H | 6/10 (60) c.226+2T |
NA: Not Applicable.