Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys

by Marlena Ewertowska, Elżbieta Grześk, Anna Urbańczyk, Anna Dąbrowska, Katarzyna Bąbol-Pokora, Monika Łęcka, Sylwia Kołtan
Published 2020-04-01

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

by Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan
Published 2017-07-01