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Gain of function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Rice GI;Del Toro Duany Y;Jenkinson EM;Forte GM;Anderson BH;Ariaudo G;Bader-Meunier B;Baildm EM;Battini R;Beresford MW;Casarano M;Chouchane M;Cimaz R;Collins AE;Cordeiro NJ;Dale RC;Davidson JE;De WaeleL;Desguerre I;Faivre L;Fazzi E;Isidor B;Lagae L;Larchman AR;Lebon P;Li C;Livingston JH;Lourenço CM;Mancardi MM;Masurel-Paulet A;McInnes IB;Menezes MP;Mignot C;O'Sullivan J;Orcesi S;Picco PP;Riva E;Robinson RA;Rodriguez D;Salvatici E;Scott C;Szybowska M;Tolmie JL;Vanderver A;Vanhulle C;Vieira JP;Webb K;Whitney RN;Williams SG;Wolfe LA;Zuberi SM;Hur S;Crow YJ

2014-01-01