Heterozygous CTLA4 splice site mutation c.458-1G > C presenting with immunodeficiency and variable degree of immune dysregulation in three generation kindred of Caribbean descent.

Abstract excerpt

Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) is an immune checkpoint, which downregulates T cell activation and T regulatory cell function. CTLA4 haploinsufficiency (CTLA4 HI) leads to T cell hyperactivation, immunodeficiency and variable degree of immune dysregulation. Furthermore, CTLA4 HI predisposes affected individuals to development of various cancers. Less well understood is the penetrance and...

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