2019 CCS research highlights: AIRmed & Immunology - Primary immunodeficiencies

Associate Professor Menno van Zelm,  
JMF Centre Director

Monash University's Central Clinical School (CCS) is at the cutting edge of medical research in national and international arenas. We are publishing a series of our research highlights from across 2019.

In this article, we feature a highlight from the Alfred Allergy Asthma and Clinical Immunology Service and the CCS Department of Immunology and Pathology.

• Centre makes inroads into rare immune disease 

Primary immunodeficiencies (PID) are rare disorders in which patients have defects in essential parts of their immune systems due to inherited genetic mutations. The hallmark of the disease is recurrent infections, meaning diagnosis is often delayed by nine or more years. Untreated disease can result in vital organ damage and physical disability, and in its worst form can be fatal.

CCS in June 2018 launched the Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies Melbourne, a multi-institute partnership aimed at treating and researching PID. The patient-oriented centre is funded by the Jeffrey Modell Foundation (JMF) as part of a large global network.

Centre Director Associate Professor Menno van Zelm from the Department of Immunology and Pathology, a leader in the field, said it had already generated meaningful interactions to discuss treatment of complicated cases, as well as collaborative research output.

A retrospective study of the diagnostic and clinical features of Australian adults with the most common form of PID – predominantly antibody deficiency (PAD) – stressed the importance of earlier and more precise diagnosis, and targeted therapeutic interventions.
 
A case report provided new insights into antibody deficiency in patients with STAT1 gain-of-function mutations, while another case report has shown the promise of haematopoietic stem cell transplantation in adults with X-linked agammaglobulinaemia.