Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

por Eletto, Davide, Burns, Siobhan O., Angulo, Ivan, Plagnol, Vincent, Gilmour, Kimberly C., Henriquez, Frances, Curtis, James, Gaspar, Miguel, Nowak, Karolin, Daza-Cajigal, Vanessa, Kumararatne, Dinakantha, Doffinger, Rainer, Thrasher, Adrian J., Nejentsev, Sergey
Publicado 2016

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ()

por Burns, Siobhan O., Plagnol, Vincent, Gutierrez, Beatriz Morillo, Al Zahrani, Daifulah, Curtis, James, Gaspar, Miguel, Hassan, Amel, Jones, Alison M., Malone, Marian, Rampling, Dyanne, McLatchie, Alex, Doffinger, Rainer, Gilmour, Kimberly C., Henriquez, Frances, Thrasher, Adrian J., Gaspar, H. Bobby, Nejentsev, Sergey
Publicado 2014