Macrophage activation syndrome mimicking life-threatening infection in a patient with variable immunodeficiency, centromeric instability, and facial anomalies.

Abstract

To the Editor .— ICF syndrome is a rare autosomal recessive disease characterized by variable immunodeficiency, centromeric instability, and facial anomalies.1,2 In most ICF cases reported, mutations in the DNA methyltransferase 3B gene are implicated.1,2 Negative selection breakdown and peripheral B cell maturation blockage contribute to agammaglobulinemia in ICF syndrome.3 The consequences of immunodepression are a higher frequency of infections such as recurrent and prolonged respiratory infections and infections of the skin and digestive system, which can be frequently lethal, leading to premature death of affected patients.4 Macrophage activation syndrome (MAS) is a serious complication …