A new immune syndrome identified

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Science  16 Nov 2018:
Vol. 362, Issue 6416, pp. 789-790
DOI: 10.1126/science.362.6416.789-b

The causes of later-onset immune deficiencies are elusive, but the symptoms can be distressing. A new syndrome that leads to global immune dysregulation has been discovered independently in two unrelated patients, one from Australia and the other in Japan. Using whole-genome sequencing, Cardinez et al. found that both patients had a mutation in a gene called inhibitor of nuclear factor kappa-B kinase subunit beta (IKBKB). The mutation causes the destruction of white blood cells known as lymphocytes, leading to excessive inflammation and recurrent infections. CRISPR-Cas technology was used to precisely engineer the same mutation into mice and generate immunodeficiency similar to that observed in human patients. This discovery highlights the value of rare-disease research and offers hope to patients with conditions that have escaped diagnosis.

J. Exp. Med. 215, 2715 (2018).

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