Autosomal recessive human CTLA-4 deficiency with autoimmune infiltration

April 22, 2026Journal of Human ImmunityOpen Access

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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.

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Study reports first case of autosomal recessive CTLA-4 deficiency, indicating unique autoimmune features compared to related conditions.

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Helen C. Su (2026) studied this question.

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