Inborn error of immunity-associated lymphoid proliferations and lymphomas diseases with haemophagocytic lymphohistiocytosis:A clinical and pathological analysis of 22 cases
ZHENG Xiaodan
ZHANG Yanlin
TENG Xiaojing
XIE Jianlan
WANG Jingshi
MA Honghao
CHEN Jiao
Abstract：Objective To observe the clinical and pathological characteristics of inborn error of immunity-associated lymphoid proliferations diseases and lymphomas(IEI-LPD/L)with haemophagocytic lymphohistiocytosis(HLH).Methods A total of 22 patients of IEI-LPD/L with HLH were collected,and their clinical and pathological characteristics and related genetic defects analyzed.Results Among the 22 patients,there were 17 males and 5 females.The age ranged from 5 months to 58 years.In addition to the diagnostic clinical manifestations of HLH,there are also other manifestations,including lymph node enlargement(13 cases),multiple serous fluid accumulation(3 cases),multiple dermatitis(2 cases),mumps(1 case),central nervous system symptoms(5 cases).Pathologically,different pathological features were displayed due to different sampling sites,including classic Hodgkin lymphoma,angioimmunoblastic T-cell lymphoma,EBV+lymphoproliferative diseases,dermatitis,mumps,lymph node reactive hyperplasia,and hemophagosis of bone marrow.Characteristics of EBV infection showed that among the 22 patients,19 had blood tests showing EBV infection;18 patients showed EBV infection in different tissue biopsies,of which 8 tissues showed EBNA2 positive.The detected genetic abnormalities and related immune syndromes mainly included:six cases of UNC13D gene abnormalities;four cases of PRF1 gene abnormalities;three cases of SH2D1A gene abnormalities;three cases of MAGT1 gene abnormality;two cases of GATA2 gene abnormalities;one case of MKL1 gene abnormality;one case of WASP gene abnormality,and one case of UBA1 gene abnormality.Follow-up showed that twelve patients underwent bone marrow transplantation,of which one developed CNS symptoms after transplantation,two were waiting for transplantation,three died,and three received symptomatic treatment and follow-up.Conclusion HLH and IEI-LPD/L are clinical names,and their pathological manifestations can be diverse,including tumor or non-neoplastic changes;Young people with EBV infection(especially multi lineage infection)and positive EBNA2 indicate the presence of immune dysfunction or genetic defects.
Keywords：hemophagocytic lymphohistiocytosislymphomaepstein-Barr virusEBNA2patients of primary immunodeficiency diseases
Publication Date：2025-11-28
Online Publishing Date：2025-12-04(First online date of this platform, not the publication date of the document)
Pages：6( 1404-1409 )