Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review

[1] McDermott MF(1999)Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes Cell 97 133-144

[2] Aksentijevich I(2020)Monogenic autoinflammatory disorders: beyond the periodic fever Intern Med J 50 151-164

[3] Galon J(2021)Management of monogenic IL-1 mediated autoinflammatory diseases in childhood Front Immunol 12 516427-929

[4] McDermott EM(2016)Control of the innate immune response by the mevalonate pathway Nat Immunol 17 922-266

[5] Ogunkolade BW(2001)Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome Eur J Hum Genet 9 260-1624

[6] Centola M(1990)IgD immune complex vasculitis in a patient with hyperimmunoglobulinemia D and periodic fever Arch Dermatol 126 1621-200

[7] Moghaddas F(2003)Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands Eur J Hum Genet 11 196-110

[8] Welzel T(2016)Mevalonate kinase deficiency: current perspectives Appl Clin Genet 9 101-2158

[9] Benseler SM(2011)On-demand anakinra treatment is effective in mevalonate kinase deficiency Ann Rheum Dis 70 2155-1919

[10] Kuemmerle-Deschner JB(2020)Management of mevalonate kinase deficiency: a pediatric perspective Front Immunol 11 1150-86

[1] McDermott MF(1999)Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes Cell 97 133-144

[2] Aksentijevich I(2020)Monogenic autoinflammatory disorders: beyond the periodic fever Intern Med J 50 151-164

[3] Galon J(2021)Management of monogenic IL-1 mediated autoinflammatory diseases in childhood Front Immunol 12 516427-929

[4] McDermott EM(2016)Control of the innate immune response by the mevalonate pathway Nat Immunol 17 922-266

[5] Ogunkolade BW(2001)Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome Eur J Hum Genet 9 260-1624

[6] Centola M(1990)IgD immune complex vasculitis in a patient with hyperimmunoglobulinemia D and periodic fever Arch Dermatol 126 1621-200

[7] Moghaddas F(2003)Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands Eur J Hum Genet 11 196-110

[8] Welzel T(2016)Mevalonate kinase deficiency: current perspectives Appl Clin Genet 9 101-2158

[9] Benseler SM(2011)On-demand anakinra treatment is effective in mevalonate kinase deficiency Ann Rheum Dis 70 2155-1919

[10] Kuemmerle-Deschner JB(2020)Management of mevalonate kinase deficiency: a pediatric perspective Front Immunol 11 1150-86