Autoimmune lymphoproliferative syndrome: analysis of 1 pedigree and review of literature
10.3760/cma.j.cn115356-20211204-00278
- VernacularTitle:自身免疫性淋巴细胞增殖综合征1例家系分析并文献复习
- Author:
Jianghua LIU
1
;
Wei LIU
;
Yange LI
Author Information
1. 郑州大学附属儿童医院 河南省儿童医院 郑州儿童医院血液肿瘤科，郑州 450000
- Keywords:
Autoimmune lymphoproliferative syndrome;
FAS gene;
Diagnosis;
Treatment
- From:
Journal of Leukemia & Lymphoma
2022;31(12):738-741
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To improve the understanding of autoimmune lymphoproliferative syndrome (ALPS).Methods:The clinical data of the proband and his family members in Children's Hospital Affiliated to Zhengzhou University in August 2018 were retrospectively analyzed, and the peripheral blood DNA of the proband, his parents and siblings was extracted. High-throughput next-generation sequencing was used to make gene analysis and validation. Phenotype and genotype of them were also analyzed. Relevant literature was reviewed.Results:The proband was a 1-year and 1-month old boy with hemolytic anemia, thrombocytopenia and splenomegaly as the main manifestations. The double negative T cells and the Vitamin B 12 of the proband were significantly increased and the autoantibodies were positive. The boy's father had a history of splenomegaly. His elder brother and sister had similar clinical manifestations. The results of next-generation sequencing showed that the FAS gene frameshift mutation (c.648delT) was detected in this boy and his father, elder brother and sister, which was a new mutation. After immunosuppressive treatment, the symptoms of the boy improved and the blood cells increased. Conclusions:The frameshift mutation of FAS gene may be the cause of the disease in this ALPS pedigree. Clinically, it is necessary to consider ALPS for children with unexplained hemocytopenia and hepatosplenomegaly. Double-negative T cells, autoantibodies, Vitamin B 12 should be tested, and high-throughput gene sequencing should be performed if necessary.
