A History of Successful Diagnosis

Alan Composite

CIRCA has already completed numerous genomic studies on previously undiagnosed patients, successfully achieving diagnosis in many and identifying a number of novel immunodeficiency genes.

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.

Alan’s care, his diagnosis through WGS, his subsequent change in treatment and allied functional studies were overseen by CIRCA members and others, through Sydney Children’s Hospital, Randwick and the Garvan Institute.

Learn more about Alan’s story in this in-depth web feature.

Other achievements of CIRCA members

  • Identification of the first novel PID genes in the Australian community; Hepatic Veno-occlusive disease with Immunodeficiency due to SP110 deficiency, Hypertrichosis-hyperpigmentation-immunodeficiency syndrome caused by SLC29A3 mutations
  • 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.