Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8 - Kanderova, Veronika; Grombirikova, Hana; Zentsova, Irena; Reblova, Kamila; Klocperk, Adam; Fejtkova, Martina; Bloomfield, Marketa; Ravcukova, Barbora; Kalina, Tomas; Freiberger, Tomas; Sediva, Anna (Haematologica, 2019)
Keywords: autoimunitní lymfoproliferativní syndrom; kaspasa 8; Amino Acid Substitution; Autoimmune Lymphoproliferative Syndrome; idiopatické střevní záněty; missense mutace; Humans; Inflammatory Bowel Diseases; mužské pohlaví; Male; lidé; substituce aminokyselin; Mutation, Missense; Caspase 8; Adolescent; primární imunodeficience; mladiství; Primary Immunodeficiency Diseases