Article
Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.
The Journal of allergy and clinical immunology - 1 Aug 2025
Chiang Samuel C C, Yang Li, Owsley Erika, Husami Ammar, Akeno Nagako, Cobb Cristina, Hartog Nicholas L, Elizalde Araceli, Seroogy Christine M, Blanchard-Rohner Geraldine, Peng Xiao P, Brager Rae, Buchbinder David, Cook Eleanor, Phillips Lindsay, Plecas Maricic Snezana, Kalashnikova Tatiana, Derfalvi Beata, Dimitriades Victoria R, Murguía-Favela Luis E, Gutierrez Maria J, Shrikhande Anitha, Steele MacGregor, Wilson Jo L, Wright Nicola A M, Marsh Rebecca, Bleesing Jack, Jordan Michael B, Marwaha Ashish K
Abstract excerpt
BACKGROUND: Biallelic loss-of-function mutations in the lipopolysaccharide-responsive and beige-like anchor (LRBA) gene lead to a severe syndrome of early-onset immune dysregulation called LRBA deficiency. Monoallelic CTLA4 mutations lead to a similar phenotype. In both conditions, cytotoxic T lymphocyte-associated protein 4 (CTLA-4) levels are significantly decreased. In previously reported cases of symptomatic...
Read the complete abstract on PubMedTopics
- Humans
- Mutation, Missense