Nous somme heureux d’annoncer la publication du travail de Chloé Dhunputh intitulé
“Abatacept is useful in autoimmune cytopenia with immunopathologic manifestations caused by CTLA-4 defects” dans la revue Blood
Blood. 2022 Jan 13;139(2):300-304. doi: 10.1182/blood.2021013496
Autoimmune diseases can reveal underlying primary immune deficiencies (PIDs), among which are cytotoxic T-lymphocyte–associated antigen 4 (CTLA-4) pathway variants. From 2015, this pathway has become a classical clinical entity combining autoimmune cytopenia (AIC) and various immunopathologic manifestations (IMs).1,2 The role of CTLA-4 in controlling lymphocyte activation can be disrupted in case of dominant heterozygous CTLA-4 variants,3,4 recessive homozygous mutations, or deletions of lipopolysaccharide-responsive beige-like anchor (LRBA)5,6 or DEF6 variants.7 Abatacept, a CTLA-4 fusion protein labeled in rheumatoid arthritis,8 is a logical targeted option for those patients.
In 2019, a preliminary study of the French OBS’CEREVANCE cohort of children with AIC identified CTLA-4 pathway pathogenic variants in 10 of 80 cases of pediatric-onset Evans syndrome (pES).9 pES is now recognized as a severe long-lasting disease: numerous IMs appearing with increasing age in…