Welcome to Stellenbosch University

Division of Molecular Biology and Human Genetics


Primary Immunodeficiency Disease and Tuberculosis Susceptibility,
Genetic Research Group

The Primary Immunodeficiency Disease Genetics Collaboration


PIDDGEN is a research group that aims to profile the genetic causes of PIDs in South Africans, with a particular focus on the predisposition to Tuberculosis. Collaboration includes the National Health Laboratory Service (NHLS), the national PID registry, colleagues from other laboratories and practices, as well as other universities.

The primary goals of the group are to:

  • Improve genetic diagnosis of PIDs in South Africa and Southern Africa
  • Identify PIDs and the wide scope of potential immunological defects that predispose to Tuberculosis, in a TB endemic setting

The secondary goals are to improve patient management and treatment, and to aid in the development of relevant genetic screening tools for South African PID patients. A special focus area is the identification of patients with suspected genetic susceptibility to Tuberculosis and other forms of PIDs which may predispose to TB. Acquired or secondary causes of immune suppression (such as HIV) must be excluded prior to referral.


PIDDGEN team members

The team consists of doctors, scientists and counsellors who practice clinical and laboratory immunology, clinical and molecular genetics, and genetic counselling.


Clinical Immunology, NHLS Tygerberg and Department of Paediatrics and Child Health

  • Dr Monika Esser, Paediatric Rheumatologist
  • Dr Helena Rabie, Paediatric Infectious Diseases Specialist
  • Rina Nortje, PID Registry Manager

Molecular Genetics, Division of Molecular Biology and Human Genetics

  • Prof Eileen Hoal, Molecular and Population Geneticist
  • Dr Craig Kinnear, Molecular Geneticist
  • Dr Marlo Möller, Molecular Geneticist and Bioinformaticist
  • Dr Brigitte Glanzmann, Bioinformaticist
  • Dr Caitlin Uren, Postdoc, Population Geneticist and Bioinformaticist
  • Ms Glenda Durrheim, Diagnostic Medical Scientist

Immunology Laboratory, Medical School, Stellenbosch University

  • Prof Gerhard Walzl
  • Dr Andre Loxton

Clinical Unit of Medical Genetics and Genetic Counselling, Tygerberg Hospital and Division of Molecular Biology and Human Genetics

  • Dr Mike Urban, Medical Geneticist
  • Mardelle Schoeman, Genetic Counsellor

University of Cape Town Collaboration

  • Dr Jonny Peter​