Autosomal recessive human CTLA-4 deficiency with autoimmune infiltration

Key Points

• To present the first case of autosomal recessive human CTLA-4 deficiency and compare it with other related patient groups.
• Descriptive analysis of a single patient with CTLA-4 deficiency.
• Comparison with CTLA-4 haploinsufficient patients and CTLA-4 inhibitor-treated patients.
• Contrasts drawn with Ctla4−/− mice.
• Identified unique autoimmune features in the CTLA-4 deficient patient.
• Compared findings with CTLA-4 haploinsufficient patients, highlighting differences in disease manifestations.
• Demonstrated variations from Ctla4−/− mice in autoimmune responses.