DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency

Sci Adv. 2023 Dec 8;9(49):eadi9566. doi: 10.1126/sciadv.adi9566. Epub 2023 Dec 6.

Abstract

Autosomal dominant loss-of-function (LoF) variants in cytotoxic T-lymphocyte associated protein 4 (CTLA4) cause immune dysregulation with autoimmunity, immunodeficiency and lymphoproliferation (IDAIL). Incomplete penetrance and variable expressivity are characteristic of IDAIL caused by CTLA-4 haploinsufficiency (CTLA-4h), pointing to a role for genetic modifiers. Here, we describe an IDAIL proband carrying a maternally inherited pathogenic CTLA4 variant and a paternally inherited rare LoF missense variant in CLEC7A, which encodes for the β-glucan pattern recognition receptor DECTIN-1. The CLEC7A variant led to a loss of DECTIN-1 dimerization and surface expression. Notably, DECTIN-1 stimulation promoted human and mouse regulatory T cell (Treg) differentiation from naïve αβ and γδ T cells, even in the absence of transforming growth factor-β. Consistent with DECTIN-1's Treg-boosting ability, partial DECTIN-1 deficiency exacerbated the Treg defect conferred by CTL4-4h. DECTIN-1/CLEC7A emerges as a modifier gene in CTLA-4h, increasing expressivity of CTLA4 variants and acting in functional epistasis with CTLA-4 to maintain immune homeostasis and tolerance.

MeSH terms

  • Animals
  • Autoimmunity
  • CTLA-4 Antigen / genetics
  • Haploinsufficiency*
  • Humans
  • Lectins, C-Type* / genetics
  • Mice

Substances

  • CTLA-4 Antigen
  • dectin 1
  • Lectins, C-Type
  • CLEC7A protein, human
  • Clec7a protein, mouse
  • CTLA4 protein, human
  • Ctla4 protein, mouse