Spontaneous regression of tumors is an extremely rare event in hepatocellular carcinoma (HCC) with only a few reports available. With the accumulation of clinical information and tumor immunogenetics, several mechanisms for the cystic changes of HCC have been suggested, including arterial thrombosis, inflammation, and rapid tumor growth. This paper reports an uncommon case of the partial regression of HCC, which was initially misdiagnosed as a mucinous cystic neoplasm of the liver due to the unusual radiologic findings. A 78-year-old female with the hepatitis B virus and liver cirrhosis presented with an approximately 5 cm-sized cystic mass of the liver. From the radiologic evidence of a papillary-like projection from the cyst wall toward the inner side, the initial impression was a mucinous cystic neoplasm of the liver. The patient underwent a surgical resection and finally, cystic degeneration of HCC, in which approximately 80% necrosis was noted. This case suggests that if a cystic neoplasm of liver appears in a patient with a high risk of HCC on a hepatobiliary imaging study, it is prudent to consider the cystic degeneration of HCC in a differential diagnosis.
Aged ; Carcinoma, Hepatocellular ; Diagnosis, Differential ; Diagnostic Errors ; Female ; Hepatitis B virus ; Humans ; Immunogenetics ; Inflammation ; Liver ; Liver Cirrhosis ; Liver Neoplasms ; Magnetic Resonance Imaging ; Mucins ; Necrosis ; Thrombosis

The Ministry of Food and Drug Safety of Korea made an official announcement in March 2018 that the total number of inoculations of Hantaan virus vaccine (Hantavax®) would change from 3 to 4. Some aspects of this decision remain controversial. Based on the characteristics of Hantaan virus (HTNV) and its role in the pathogenesis of hemorrhagic fever with renal syndrome, it might be difficult to develop an effective and safe HTNV vaccine through the isolate-inactivate-inject paradigm. With the development of high-throughput ‘omics’ technologies in the 21st century, vaccinomics has been introduced. While the goal of vaccinomics is to develop equations to describe and predict the immune response, it could also serve as a tool for developing new vaccine candidates and individualized approaches to vaccinology. Thus, the possibility of applying the innovative field of vaccinomics to develop a more effective and safer HTNV vaccine should be considered.
Hantaan virus ; Hemorrhagic Fever with Renal Syndrome ; Humans ; Immunogenetics ; Korea ; Precision Medicine ; Vaccines ; Vaccines, Synthetic

Spontaneous regression of tumors is an extremely rare event in hepatocellular carcinoma (HCC) with only a few reports available. With the accumulation of clinical information and tumor immunogenetics, several mechanisms for the cystic changes of HCC have been suggested, including arterial thrombosis, inflammation, and rapid tumor growth. This paper reports an uncommon case of the partial regression of HCC, which was initially misdiagnosed as a mucinous cystic neoplasm of the liver due to the unusual radiologic findings. A 78-year-old female with the hepatitis B virus and liver cirrhosis presented with an approximately 5 cm-sized cystic mass of the liver. From the radiologic evidence of a papillary-like projection from the cyst wall toward the inner side, the initial impression was a mucinous cystic neoplasm of the liver. The patient underwent a surgical resection and finally, cystic degeneration of HCC, in which approximately 80% necrosis was noted. This case suggests that if a cystic neoplasm of liver appears in a patient with a high risk of HCC on a hepatobiliary imaging study, it is prudent to consider the cystic degeneration of HCC in a differential diagnosis.
Aged ; Carcinoma, Hepatocellular ; Diagnosis, Differential ; Diagnostic Errors ; Female ; Hepatitis B virus ; Humans ; Immunogenetics ; Inflammation ; Liver ; Liver Cirrhosis ; Liver Neoplasms ; Magnetic Resonance Imaging ; Mucins ; Necrosis ; Thrombosis

Genes play an important role in the immune system response, and different gene loci may result in different vaccine immune response rates. This review focuses on the correlation between gene polymorphisms and vaccine immune response in order to investigate the influence of gene polymorphisms on the immune response to vaccines. It discusses the effect of an individual's immune response after vaccination at genetic level and provides a scientific basis for individualized immune development strategies. It reveals that human leukocyte antigen genes, various cytokines and their receptor genes, and Toll-like receptor genes all affect the vaccine immune response.
Cytokines ; Genetic Variation/immunology* ; Humans ; Immune System ; Immunity/physiology* ; Immunity, Active/immunology* ; Immunogenetics ; Polymorphism, Genetic ; Vaccination ; Vaccines/immunology*

This study was aimed to investigate the immunogenetic diagnosis of large granular lymphocytic leukemia (LGLL) and therapeutic efficacy of sirolimus, and to analysis 256 cases of LGLL reported at home and abroad within 2000 - 2010. Besides the routine examination of peripheral blood and classification of bone marrow cell morphology, the expression of T cell receptor variable region of β-chain (TCR BV), CD3, CD4 and CD8, as well as TCRαβ, TCRγδ were detected by flow cytometry; the RT-PCR was used to amplify and determine the TCR gene spectrotypes, and to analyze the clonality of abnormal cells. Sirolimus was first given to patients who did not gain efficacy from common agents. The results showed that lymphocytosis happened in all LGLL patients, but patients from West countries always displayed neutropenia while Chinese patients always displayed anemia. In 2 out of 4 patients from our hospital, the large granular lymphocytes (LGL) were difficult to be distinguished. In all 4 patients, almost all lymphocytes were CD3(+), CD8(+), and TCRα/β(+). TCR BV 24 gene family clones showed monoclonal TRBV 23, TRBV 20, TRBV 13.6, and TRBV 13.6, respectively. FCM results were consistent with those of RT-PCR. When 4 patients had been given sirolimus (6 mg first dose, 2 mg once a day) for about 1 week, hemoglobin level and reticulocyte count increased significantly without any serious side effects. It is concluded that the detection of specific lymphocyte monoclonal TCR BV 24 gene family by FCM contributes to the diagnosis of LGLL. Sirolimus is an effective agent without serious side effect for LGLL patients, especially for patients who cannot tolerate common drugs.
Adult ; Aged ; Female ; Flow Cytometry ; Humans ; Immunogenetics ; Leukemia, Large Granular Lymphocytic ; diagnosis ; drug therapy ; Male ; Middle Aged ; Receptors, Antigen, T-Cell, alpha-beta ; genetics ; Receptors, Antigen, T-Cell, gamma-delta ; genetics ; Sirolimus ; therapeutic use ; Treatment Outcome

Juvenile rheumatoid arthritis (JRA) is the most common rheumatic childhood disease; its onset is before 16 years of age and it persists for at least 6 weeks. JRA encompasses a heterogeneous group of diseases that is classified according to 3 major presentations: oligoarthritis, polyarthritis, and systemic onset diseases. These presentations may originate from the same or different causes that involve interaction with specific immunogenetic predispositions, and result in heterogeneous clinical manifestations. An arthritic joint exhibits cardinal signs of joint inflammation, such as swelling, pain, heat, and loss of function; any joint can be arthritic, but large joints are more frequently affected. Extra-articular manifestations include high fever, skin rash, serositis, and uveitis. The first 2 types of JRA are regarded as T helper 1 (Th1) cell-mediated inflammatory disorders, mainly based on the abundance of activated Th1 cells in the inflamed synovium and the pathogenetic role of proinflammatory cytokines that are mainly produced by Th1 cell-stimulated monocytes. In contrast, the pathogenesis of systemic onset disease differs from that of other types of JRA in several respects, including the lack of association with human leukocyte antigen type and the absence of autoantibodies or autoreactive T cells. Although the precise mechanism that leads to JRA remains unclear, proinflammatory cytokines are thought to be responsible for at least part of the clinical symptoms in all JRA types. The effectiveness of biologic therapy in blocking the action of these cytokines in JRA patients provides strong evidence that they play a fundamental role in JRA inflammation.
Arthritis ; Arthritis, Juvenile Rheumatoid ; Autoantibodies ; Biological Therapy ; Child ; Cytokines ; Exanthema ; Fever ; Hot Temperature ; Humans ; Immunogenetics ; Inflammation ; Joints ; Leukocytes ; Monocytes ; Serositis ; Synovial Membrane ; T-Lymphocytes ; Th1 Cells ; Uveitis

Child ; Humans ; Immune System Diseases ; genetics ; Immunogenetics ; Pediatrics

PURPOSE: The study was aimed to investigate immunogenetic peculiarities of neuroinflammatory CNS diseases in Korean children. METHODS: A total of 16 children with neuroinflammatory CNS diseases(9 males and 7 females; mean age 7.5+/-4.2 years) were consecutively recruited. Genomic typings were performed on their HLA DRB/HLA DQB genes using PCR-SSOP/SSP techniques with Gel immunoelectrophoresis. RESULTS: The frequencies of HLA-DRB1*14(38%), HLA-DRB1*15(25%), HLA-DRB3* 02(50%), HLA-DQB1*05(56%) and DQB1*06(44%) were significantly increased compared with a control group. The frequencies of HLA-DRB1*15(50%) and HLA-DQB1*06(63%) were significantly increased in children with ADEM and HLA-DRB3*0202(100%), HLA- DRB1*1302(67%), HLA-DRB3*0301(67%), and HLA-DQB1*0301(67%) in children with multiple sclerosis. HLA-DRB1*1401, HLA-DRB3*0202, and HLA-DQB1*0502 were found in children with acute necrotizing encephalopathy. CONCLUSION:HLA-DRB1*14, HLA-DRB1*15, HLA-DRB3*02, HLA-DQB1*05 and DQB1*06 may be associated with the susceptibility to neuroinflammatory CNS diseases in Korean children. The frequencies of HLA-DRB1*1501, HLA-DRB5*0101, HLA-DRB3* 0301, and HLA-DQB1*0602 in Korean children with multiple sclerosis were not as high as those in western children. However, HLA-DRB3*0202 was seen in all the children with multiple sclerosis. Our data may provide further evidence that the immunogenetic backgrounds of neuroinflammatory CNS diseases in Korean children are distinctly different from those in Westerns. However, further studies are needed.
Central Nervous System Diseases* ; Child* ; Encephalomyelitis, Acute Disseminated ; Female ; Humans ; Immunoelectrophoresis ; Immunogenetics ; Male ; Molecular Typing* ; Multiple Sclerosis

BACKGROUND: Despite the advent of molecular biology and immunogenetics, the biologic behaviors and disease entities of primary cutaneous B-cell lymphomas(pCBCL) have been undetermined. Moreover, rarity of pCBCL cases and the conflicting datas of current issues have contributed to the dilemmas in understanding of the biology of pCBCL. Until now, a study of the overall features of pCBCL in Korea has been rarely presented. OBJECTIVE: We performed this study in order to identify the histopathologic and immunogenetic characteristics of pCBCL in Korea. METHODS: The histopathologic, immunophenotypic and molecular analysis of preserved specimens of 15 cases with pCBCL were conducted. RESULTS: 1. Of the 15 patients with pCBCL, most common types are follicle center cell lymphomas(73.3%). In REAL classification, diffuse large B-cell lymphoma is most common(66.6%). 2. In bcl-2 immunohistochemical staining, 3 cases(20%) were positive. 3. Only one of 15 cases of pCBCL denoted bcl-2 gene rearrangement by t(14;18) in minor cluster region. 4. Immunohistochemical staining demonstrated overexpression of p53 protein in 3(20%) of 15 cases. 5. 2 cases(13.3%) with point mutations(one for exon 5; the other for exon 8) in p53 DNA sequencing analysis. CONCLUSION: t(14;18) translocation may be rare in pCBCL in Korea. This finding indicates that bcl-2 expression by tumor cells in pCBCL without t(14;18) may occur by different genetic dysregulation. It seems to be that overexpression of p53 protein might not correspond with p53 mutations in pCBCL.
B-Lymphocytes* ; Biology ; Classification ; Exons ; Genes, bcl-2 ; Humans ; Immunogenetics* ; Korea* ; Lymphoma, B-Cell* ; Molecular Biology ; Sequence Analysis, DNA

OBJECT: This study was performed to examine the relationship between immunogenetics and schizophrenia by analyzing polymorphism of CTLA4 gene, which is known to affect the apoptosis and the activation of T cells. METHOD: 116 schizophrenic patients who were diagnosed by DSM-IV and 149 normal controls obtained from the Catholic Hemopoietic Stem Cell Information Bank of Korea were analyzed. After extracting DNA from whole blood, we amplified CTLA4 exon1 genes by polymerase chain reaction and assessed by SSCP. RESULTS: Genotype frequencies of CTLA4 G/G, CTLA4 A/A, and CTLA G/A between patients with schizophrenia and controls were different with statistical significance. Data also showed significant differences in frequencies of CTLA4 A and CTLA4 G alleles between the two groups. CONCLUSION: In this study, we found a partial relataionship between CTLA4 exon 1 +49 region polymophism and schizophrenia. Further systemic studies for larger subjects including adjacent genes and diverse clinical variables in the future may reveal the effects of CTLA4 gene on the susceptibility of schizophrenia.
Alleles ; Apoptosis ; Diagnostic and Statistical Manual of Mental Disorders ; DNA ; Exons ; Genotype ; Humans ; Immunogenetics ; Korea ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Schizophrenia* ; Stem Cells ; T-Lymphocytes