Grossman William J, Radhi Mohammed, Schauer Dennis, Gerday Erick, Grose Charles, Goldman Frederick D
Division of Pediatric Hematology, Oncology, Blood, and Marrow Transplant, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, USA.
Blood. 2005 Aug 15;106(4):1203-6. doi: 10.1182/blood-2005-03-0950. Epub 2005 Apr 19.
Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of immune dysregulation, characterized by end-organ damage from lymphocytic infiltration and macrophage activation. All known mutations associated with the HLH occur in genes critical in the perforin-granzyme pathway. Herein, we report HLH occurring in 2 female triplet infants who also had associated human herpesvirus type 8 (HHV-8) infections. The subjects had identical novel compound-heterozygous mutations in the Perforin alleles, resulting in undetectable perforin expression and NK-cell cytotoxicity. Both infants also had evidence of infection with HHV-8. These reports are, to our knowledge, the first cases of HLH in triplets and the first reported cases of HHV-8 infection associated with HLH in non-renal transplant and non-HIV-infected subjects.
噬血细胞性淋巴组织细胞增生症（HLH）是一种罕见的免疫失调疾病，其特征是淋巴细胞浸润和巨噬细胞活化导致终末器官损伤。所有已知与HLH相关的突变都发生在穿孔素-颗粒酶途径的关键基因中。在此，我们报告了2例女性三胞胎婴儿发生HLH，她们还伴有人类疱疹病毒8型（HHV-8）感染。这些受试者在穿孔素等位基因中存在相同的新型复合杂合突变，导致无法检测到穿孔素表达和自然杀伤细胞（NK细胞）的细胞毒性。两名婴儿均有HHV-8感染的证据。据我们所知，这些报告是三胞胎中HLH的首例病例，也是非肾移植和非HIV感染受试者中首次报道的与HLH相关的HHV-8感染病例。
