Recent Scientific Reports
Emily Edwards
Members of the JMF Centre Melbourne frequently collaborate to publish new case studies and scientific research relating to Primary Immunodeficiency. An up to date list of scientific reports published by the consortium can be found below:
Combined immunodeficiency in patient with LCP2 variants
JMF Melbourne team collaboration between Monash Health and Monash University uncover a novel genetic error driving combined immunodeficiency and autoimmunity. This study shows that a variant in the LCP2 gene encoding the adaptor protein SLP76, known to be important for T-cell signalling and function. This variant reduces the proteins expression levels causes reduced signalling upon engagement of antigen-receptors important for sensing foreign agents on both B and T cells. This limits the ability of B and T cells to respond to these agents, so that the immune response cannot combat these pathogens or respond to the same degree as healthy individuals to vaccines. The identification of these genetic causes of disease are important for understanding what drives disease in each patient, and can provide different avenues for treatment. Read more here.
Stability of SARS-CoV-2 memory B cells
World-first research from the laboratory of JMF Centre Melbourne’s Director A/Prof Menno van Zelm sheds light on maintenance of the memory B cell response to SARS-CoV-2. This study shows that although antibody levels decline, the number of memory B cells capable of remembering the virus are maintained at stable levels for up to 8 months. These cells are responsible for production of protective antibodies upon viral re-exposure. These insights provide hope for long term protection to SARS-CoV-2 and hope for protective long-lasting immunity to vaccine. Read more here.
Genetics of Predominantly Antibody Deficiency
Comprehensive review of the genetic defects driving predominantly antibody deficiency (PAD) the most common form of primary immunodeficiency. This article highlights the impact of these genes on B cell biology, and how this impacts antibody production, as well as the challenges impeding a higher genetic diagnosis rate for PAD patients. Furthermore, authors address these challenges can be overcome and the importance of increasing the genetic diagnosis rate to improve patient access to personalised medicine. Read more here.
Timeline detailing single gene variants identified in PAD patients. To read the full text click here.
Primary Immunodeficiencies Worldwide
A recent editorial highlighting the scope of articles incorporated in the “Primary Immunodeficiencies Worldwde” topic. This topic brings together twenty-two original clinical and basic research articles from various geographical areas to highlight challenges and developments in epidemiology, diagnosis and treatment of Primary Immunodeficiencies Worldwide.
Identification of immunological differences in patients with non-infectious complications
A study of the clinical and immunological features of adults with predominantly
antibody deficiency (PAD). This paper identified key differences in the numbers
of different of immune cell subsets in PAD patients with and without
non-infectious complications including autoimmunity and auto-inflammation, which
may represent immune cell biomarkers of disease development.
Quantification of T cell and B cell Replication History to Screen PIDs
A new molecular technique for the quantification of T cell and B cell replication from dried blood spots and how it might form the basis of a second-tier test in neonatal screening in PIDs.
Stem cell transplantation to treat XLA
Patients with X-linked agammaglobulinemia (XLA) lack B cells and as such don’t produce protective antibodies. This paper is a case study following an XLA patient with B-ALL pre and post stem cell transplantation, and provides evidence for successful restoration of an antibody response.
Antibody deficiency in STAT1 gof
A case study outlining the clinical and immunological presentation of a patient with STAT1 gof. This paper investigates the mechanisms underlying antibody deficiency in this patient.
Delayed diagnosis and complications in adult PAD patients
A retrospective study of the clinical and immunological features of Australian adults with predominantly antibody deficiency (PAD).
