Hemophagocytic lymphohistiocytosis in children with Griscelli syndrome type 2: genetics, laboratory findings and treatment.

IF 1.4 Q4 IMMUNOLOGY American journal of clinical and experimental immunology Pub Date : 2023-12-15 eCollection Date: 2023-01-01
Ezgi Cay, Ahmet Sezer, Veysel Karakulak, Mahir Serbes, Dilek Ozcan, Atil Bisgin, Utku Aygunes, H Ilgen Sasmaz, Sevinc P Yucel, Tugba Toyran, Derya U Altintas
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Abstract

Griscelli syndrome is a rare inherited autosomal recessive syndrome that causes immunodeficiency. Hemophagocytic lymphohistiocytosis (HLH), which is characterized by a high mortality rate, may develop because of Griscelli syndrome type 2 (GS2). We aimed to share our experience with the diagnosis and treatment methods of patients who developed HLH secondary to GS2. Patients with GS2 who were diagnosed and treated for HLH between 2017 and 2022 at the Cukurova University Division of Pediatric Allergy & Immunology and Division of Pediatric Hematology were included in the study. Microscopic examination of the hair shaft and next-generation sequencing for molecular genetic testing of RAB27A helped in the diagnosis of GS2. The first clinical presentation of 8 patients was HLH. One patient presented with CNS involvement and two patients presented with recurrent fever. Over 5 years, GS2 was diagnosed in 15 patients, of whom 11 (73.3%) developed HLH. The HLH-2004 protocol was used to treat these patients. Hematopoietic stem cell transplantation (HSCT) was performed in five patients who were matched with suitable donors. While all patients who underwent HSCT were alive, three patients who could not undergo HSCT because no donor could be found died. Deletion of CAAGC at nucleotides 514_518 in GS2 patients is associated with CNS involvement and a poor prognosis. HLH may be the first sign of presentation in patients with GS2. Although further research is needed, regardless of the conditioning regimen utilized, early HSCT remains the primary therapy option for preventing GS2-induced mortality in HLH.

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格里斯切利综合征2型患儿的嗜血细胞淋巴组织细胞增多症:遗传学、实验室发现和治疗。
格里斯切利综合征是一种罕见的常染色体隐性遗传综合征,会导致免疫缺陷。嗜血细胞性淋巴组织细胞增多症(HLH)的特点是死亡率高,它可能因格里什利综合征 2 型(GS2)而发病。我们的目的是分享我们对因 GS2 而继发 HLH 的患者的诊断和治疗方法的经验。研究纳入了2017年至2022年期间在库库罗瓦大学儿科过敏与免疫学部和儿科血液学部接受诊断和治疗的GS2型HLH患者。毛干显微镜检查和用于 RAB27A 分子遗传检测的新一代测序有助于 GS2 的诊断。8 名患者的首次临床表现为 HLH。一名患者出现中枢神经系统受累,两名患者出现反复发热。5 年间,15 名患者被确诊为 GS2,其中 11 人(73.3%)发展为 HLH。这些患者均采用 HLH-2004 方案进行治疗。为五名匹配到合适供体的患者进行了造血干细胞移植(HSCT)。接受造血干细胞移植的所有患者均存活,但有三名患者因找不到捐献者而无法接受造血干细胞移植,最终死亡。GS2患者核苷酸514_518的CAAGC缺失与中枢神经系统受累和预后不良有关。HLH可能是GS2患者的首发症状。尽管还需要进一步的研究,但无论采用哪种治疗方案,早期造血干细胞移植仍是预防GS2引起的HLH死亡的主要治疗方案。
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