Jolan Eszter Walter

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

The paper identifies loss of transitional B cell tolerance and extrafollicular expansion of autoreactive B cells as a common mechanism driving autoimmunity in monogenic CVID.

Congenital T cell activation in CTLA4-deficient patients impairs transitional to follicular B cell maturation and can be rescued by CTLA4 replacement therapy in vivo.

The paper predicts clinically relevant variants in RAG1 and RAG2 by analyzing mutation rates and residue frequencies to identify disease-causing mutations.