Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa

by Ansia van Coller, Brigitte Glanzmann, Helena Cornelissen, Marlo Möller, Craig Kinnear, Monika Esser, Richard Glashoff
Published 2021-09-01

Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting

by Clair Engelbrecht, Michael Urban, Mardelle Schoeman, Brandon Paarwater, Ansia van Coller, Deepthi Raju Abraham, Helena Cornelissen, Richard Glashoff, Monika Esser, Monika Esser, Marlo Möller, Craig Kinnear, Craig Kinnear, Brigitte Glanzmann
Published 2021-05-01

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

by Brigitte Glanzmann, Marlo Möller, Mardelle Schoeman, Michael Urban, Paul D. van Helden, Lisa Frigati, Ravnit Grewal, Hermanus Pieters, Ben Loos, Eileen G. Hoal, Richard H. Glashoff, Helena Cornelissen, Helena Rabie, Monika M. Esser, Craig J. Kinnear
Published 2020-06-01