Anaïs Pereira
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Anaïs Pereira has a total of 98 co-authors. Here are the top co-authors by number of shared publications:
- Adrian Gervais
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University
1 shared publication - Alexandre Bolze
McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center 4 , Dallas, TX
1 shared publication - Amal Hasan
Department of Immunology and Microbiology, Dasman Diabetes Institute, Kuwait City, Kuwait
1 shared publication - Andrea Guennoun
Department of Human Immunology, Sidra Medicine, Doha, Qatar
1 shared publication - Anna Stittrich
Labor Berlin Charité-Vivantes GmbH, Department of Human Genetics, Berlin, Germany
1 shared publication Anne Langlois de Septenville
Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique–Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France
1 shared publication
Latest Publications
- Open Access
- 1 March 2024
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 383 (6686) , eadh4059
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants
We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre–α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted over time, with normal memory αβ and high γδ T cell counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue αβ T cell development. Only a minority of these individuals were sick, with infection, lymphoproliferation, and/or autoimmunity. We also report that 1 in 4000 individuals from the Middle East and South Asia are homozygous for a common hypomorphic PTCRA variant. They had normal circulating naive αβ T cell counts but high γδ T cell counts. Although residual pre-TCRα expression drove the differentiation of more αβ T cells, autoimmune conditions were more frequent in these patients compared with the general population.
- 1 March 2024
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 383 (6686) , eadh4059
Open AccessThe immunopathological landscape of human pre-TCRα deficiency: From rare to common variants
We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre–α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted over time, with normal memory αβ and high γδ T cell counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue αβ T cell development. Only a minority of these individuals were sick, with infection, lymphoproliferation, and/or autoimmunity. We also report that 1 in 4000 individuals from the Middle East and South Asia are homozygous for a common hypomorphic PTCRA variant. They had normal circulating naive αβ T cell counts but high γδ T cell counts. Although residual pre-TCRα expression drove the differentiation of more αβ T cells, autoimmune conditions were more frequent in these patients compared with the general population.