CHAI and LATAIE: New genetic diseases of CTLA-4 checkpoint insufficiency

Bernice Lo, Jill M. Fritz, Helen C. Su, Gulbu Uzel, Michael B. Jordan, Michael J. Lenardo

Research output: Contribution to journalArticle

51 Citations (Scopus)


CTLA-4 is a critical inhibitory 'checkpoint' molecule of immune activation. Several recent reports have described patients with immune dysregulation and lymphoproliferative disease resulting from 2 different genetic diseases that directly or indirectly cause CTLA-4 deficiency. Numerous articles have also been published describing CTLA-4 blockade in cancer immunotherapy and its side effects, which are ultimately the consequence of treatmentinduced CTLA-4 deficiency. Here, we review these 2 diseases and CTLA-4 blockade therapy, emphasizing the crucial role of CTLA-4 in immune checkpoint regulation.

Original languageEnglish
Pages (from-to)1037-1042
Number of pages6
Issue number8
Publication statusPublished - 25 Aug 2016
Externally publishedYes


ASJC Scopus subject areas

  • Immunology
  • Biochemistry
  • Hematology
  • Cell Biology

Cite this

Lo, B., Fritz, J. M., Su, H. C., Uzel, G., Jordan, M. B., & Lenardo, M. J. (2016). CHAI and LATAIE: New genetic diseases of CTLA-4 checkpoint insufficiency. Blood, 128(8), 1037-1042.