APS‐1 is an extremely rare, autosomal recessive condition that often presents with candidiasis, adrenal insufficiency, and hypoparathyroidism. This condition is associated with autoimmune hepatitis in less than 20% of cases, and there have only been a few reports of children with the condition who developed ALF. We present a unique case of an infant with APS‐1 who developed ALF and subsequently required liver transplantation.
Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is an immune checkpoint, which downregulates T cell activation and T regulatory cell function. CTLA-4 haploinsufficiency (CTLA4 HI) leads to T cell hyperactivation, immune dysregulation, lymphoproliferation and cancer predisposition. Less well understood is the penetrance and expressivity of CTLA-4 mutations. We describe five members of a single family with heterozygous CTLA-4 splice site mutation c.458-1G>C, previously shown to result in CTLA-4 HI, who presented with variable degree of immune dysfunction, lymphocytic infiltration and autoimmunity. The host, environmental and the epigenetic factors affecting the penetrance and expressivity of CTLA-4 mutations merits further investigation.
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