Table 1 Comparison of the clinical manifestations of 33 pediatric patients with NLRP12-AID summarized in the literature
From: NLRP12-associated systemic autoinflammatory diseases in children
Publication year [ref] | age/sex | NLRP12 variant | Family history | Cold trigger | Fever duration | Interval | Polyarthralgia/arthritis | Abdominal symptoms | Skin rash | Lympadenopathy/splenomegaly | Headache | Neurosensory deafness | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
2008 [17] | 10/M (twins) | c.850C > T; p.R284X | + | + | 2–10 d | < 1 m | + | – | Urticaria | – | + | + |  |
+ | + | 2–10 d | < 1 m | + | – | Urticaria | – | + | + |  | |||
9/F | c.2072 + 3insT; p.V635fs | + | + | 7 d | 3 w | + | + | – | + | + | – | Buccal aphthous ulcers; Increased CRP | |
2011 [18] | 1/? | c.1054C > T; p.R352C | – | + | 2–3 d | < 1 m | + | + | – | – | – | – |  |
2.5/? | – | + | < 1 d | > 1 w | + | + | Malar rash | + | – | – | Buccal aphthosis; increased CRP | ||
2013 [33] | 3/F | c.1206C > G; p.F402L | + | + | 3d |  | + | – | Urticarial | + | – | – | Increased ESR |
17/F | – | + | 5-10d |  | + | – | maculopapular and urticarial | – | + | + | Increased CRP/ESR | ||
2017 [34] | 2 m-13 y (9/F, 6/M) | 10/15 single heterozygous mutations: c.154G > A; p.G52S c.169G > T; p.A57S c.632G > A;p.R211H c.737A > G; p.Y246C c.1054C > T; p.R352C c.1250A > T;p.Q417L c.2216_2217del;p.R739fs c.910C > T; p.H304Y 3/15 heterozygous: c.910C > T; p.H304Y&c.1206C > G; p.F402L(2) c.2168G > A; p.R723Q &c.2261G > A; p.R754H(1) 2/15 homozygous: c.1206C > G; p.F402L(2) | ? | 3/5 | 1–5 d | 1 w–2-3 m | 3/15 | 8/15 | 2/15 Urticaria | 4/15 | 3/15 | – | 9/15 Infection susceptibility, 3/15 Crohn’s disease, 2/15 aphthous stomatitis, 1/15 immunodeficiency, autoimmune hemolytic anemia, pancytopenia and interstitial lung disease; 3/15 Increased CRP |
2018 [35] | 6/M | c.1732A > G;p.S578G | – | – | 4–5 d | 1 m | – | + | Urticaria | – | + | – | C3 glomerulopathy, increased CRP/ESR |
2019 [36] | 9/M | c.779C > T; p.T260M | – | – | 3–4 d | 4–6 w | – | + | – | – | – | – | Increased CRP |
2019 [37] | 4/F | c.2935A > G; p.S979G | – | – | 14 d | 1–2 m | + | + | – | + | – | + | Neutrophilic leucocytosis, thrombocytosis and increased acute phase reactants |
2020 [38] | 3/F | c.1742G > A; p.W581X | – | – | + |  | + | – | Macular rash | – | – | – | Increased CRP/ESR, ANA+ |
5/F | c.2072 + 2dupT | – | – | + |  | + | – | Urticaria | + | – | + | Increased CRP/ESR | |
0.5/F | c.1673 T > G; p.L558R | – | – | 2–8 d | 1–4 m | + | + | Rash | – | – | – | Hearing loss and uveitis, increased ESR/CRP/platelets | |
2020 [32] | 4/(3/F, 1/M) | c.1673 T > G; p.L558R | – | – | 4/4 |  | 3/4 | 1/4 | 3/4 Urticaria | 2/4 | – | 2/4 | 4/4 Increased ESR/CRP, 1/4 ANA+ |
c.1742G > A; p.W581X | |||||||||||||
c.2188G > C; p.G730R | |||||||||||||
c.2072 + 2dupT | |||||||||||||
2020 [39] | 9/F | c.2129 T > C, p.L710P | – | – | 10 d | 3 m | + | – | Rash | – | – | – | Increased CRP/ESR/IL-6 serum ferritin |
Summary | 33cases | 21 variants | 4/18 | 10/33 | 33/33 | Â | 18/33 | 16/33 | 15/33 | 11/33 | 8/33 | 7/33 | 18/33 Increased acute phase reactants; 4/33 aphthosis |