Clinical studies

Read about some of CIRCA's successful diagnoses and studies.

A history of successful diagnosis 

CIRCA has completed numerous genomic studies, and successfully diagnosed many patients. We've identified a number of novel immunodeficiency genes, leading to treatments that would otherwise not have been considered.

Life-saving genomics: Stella's story

Collien thought her newborn, Stella, was just a colicky baby. But at only three weeks old, Stella started presenting with signs of what would later be diagnosed as a life-threatening immune disorder.

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Alan’s story

Once gravely ill with an immune condition that was destroying his own cells, 7-year-old Alan is now an energetic boy who delights in Lego adventures and light-sabre duels. His medical saga is not yet over, but the improvement in his condition has been immense.

Alan is one of the first people in Australia to have received a diagnosis from whole genome sequencing that has changed his treatment – and, in Alan’s case, transformed his health.

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Discovering the unknown

At only 11 years old, Oscar suffered a stroke. He was placed in ICU after suffering three more. The doctors couldn’t understand why an otherwise healthy looking boy was having a stroke, but what they did know was that his body was battling something serious.

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Solving rare disease mysteries

A genetic research discovery has helped diagnose a young boy’s severe, debilitating immune condition after years of inconclusive tests, which helped his younger sister avoid a potential future of devastating illness.

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Making sense of a new immune disease

AD-HIES (Autosomal Dominant Hyper IgE Syndrome) is a disease in which patients suffer from deficiencies in their immune system. An international team’s detective work signals new promise in the effort to demystify unexplained, perplexing diseases.

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Other achievements of CIRCA members

  • Several members (Stuart Tangye, Cindy Ma, Elissa Deenick) have played critical roles in discovering and characterising novel genetic variants underlying inborn errors of immunity (eg mutations in RHOH, OX40, TCF3, RORC, IRF4, TYK2, IL12RB2, IL23R, SPPL2A, ZIP7, GINS1, CD70, RLTPR, PIK3CD and CTLA4) on immune cell development and function in the setting of infectious disease and immune dysregulation.
  • Elucidating disease pathogenesis in X-linked lymphoproliferative disease due to mutations in SH2D1A, autosomal dominant hyper-IgE syndrome (STAT3 deficiency), autosomal recessive hyper-IgE syndrome (DOCK8-deficiency), and conditions arising from mutations in TYK2 and RORC.