Mancebo Esther, Allende Luis M, Guzmán María, Paz-Artal Estela, Gil Juana, Urrea-Moreno Ramón, Fernández-Cruz Eduardo, Gayà Antoni, Calvo Javier, Arbós Aina, Durán M Antonia, Canet Ramón, Balanzat José, Udina María A, Vercher F Javier
Department of Immunology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Haematologica. 2006 Sep;91(9):1257-60.
Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an autosomal recessive disorder of infancy and early childhood that impairs or abolishes lymphocyte cytotoxicity. We report the first case of FHL in an adult patient homozygous for A91V in PRF1 with tuberculosis. The monozygotic twin of the patient is healthy. A91V confers genetic susceptibility for the development of FHL, but is not enough to trigger the disease on its own. We discuss the role of the A91V change together with M. tuberculosis infection as synergistic factors in the late onset of FHL.
穿孔素基因（PRF1）突变在20%-30%的家族性噬血细胞性淋巴组织细胞增生症（FHL）患者中被报道，FHL是一种婴幼儿期的常染色体隐性疾病，会损害或消除淋巴细胞的细胞毒性。我们报告了首例成年FHL患者，该患者PRF1基因A91V位点纯合且患有结核病。患者的同卵双胞胎身体健康。A91V赋予了发生FHL的遗传易感性，但仅凭其自身并不足以引发该病。我们讨论了A91V变异与结核分枝杆菌感染作为FHL迟发的协同因素所起的作用。
