Prof. Rabih Halwani, Professor of Immunology at the College of Medicine, contributed to the discovery of
two novel gene variants causing two rare primary immune deficiency conditions. This discovery was made
possible through a collaboration with international groups from
Rockefeller University in New York, Paris Descartes University,
King Saud University in Saudi Arabia, and others. One of the
gene variants was found to cause STING-associated vasculopathy with onset in infancy (SAVI) in a Saudi patient. This discovery saved the patient's life, who was treated with a medication counteracting the effect of the mutation. The other
discovery was for a gene variant in a patient with recurrent
Herpes Simplex Encephalitis (HSE).