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A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation

Mehmet Cihangir Catak,Salim Can,Satanay Hubrack,Feyza Bayram Catak,Asha Elmi,Royala Babayeva,Razin Amirov,Melek Yorgun Altunbas,Sevgi Bilgic Eltan,Deniz Ertem,Baris Yilmaz,Ahmet Koc,Batu Erman,Emine Bozkurtlar,Elif Karakoc-Aydiner,Ahmet Ozen,Bernice Lo,Safa Baris

Catak et al. describe the first case of homozygous CTLA-4 deficiency, which drives severe early-onset autoimmunity through profound T and B cell dysregulation. They show that the variant impairs protein stability, yet targeted therapy with abatacept successfully restores immune balance, highlighting new clinical strategies for CTLA-4–related disorders.

View Articletitled, A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation

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Autosomal recessive human CTLA-4 deficiency with autoimmune infiltration

Helen C. Su

A report in this issue of JHI deepens our understanding of human disease associated with loss of CTLA-4.

View Articletitled, Autosomal recessive human CTLA-4 deficiency with autoimmune infiltration