• Title/Summary/Keyword: Primary immunodeficiency disease

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Hepatocellular Carcinoma Following Vertical Transmission of Hepatitis B Virus in a Child with X-linked Agammaglobulinemia (범저감마 글로불린혈증 환아에서 B형 간염 바이러스 수직 감염에 의해 발생한 간세포 암종 1례)

  • Oh, Jong-Gon;Kim, Byung-Ju;Kook, Hoon;Woo, Young-Jong;Choi, Young-Youn;Ma, Jae-Sook;Hwang, Tai-Ju;Seo, Jong-Jin
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.3 no.1
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    • pp.105-109
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    • 2000
  • X-linked agammaglobulinemia (XLA) is a primary inherited B-cell immunodeficiency. The prevalence of neoplastic disease in patients with XLA is approximatedly 0.7%. The most frequent tumor is lymphoreticular malignancy. We report a case of hepatocellular carcinoma (HCC) in a 13-year-old boy with XLA, after probable maternal transmission of hepatitis B virus. The authors consider that the vertical transmission of hepatitis B virus might play an important role in the development of HCC in a child with XLA who could not eliminate hepatitis B virus effectively.

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Analysis of Risk and Benefit of Open Lung Biopsy in Severe Immunocompromised Patients with Pulmonary Complications (폐합병증을 동반한 심한 면역저하 환자에서 폐생검술의 유효성 및 위험성에 대한 분석)

  • 이호석;이성호;김관민;심영목;한정호
    • Journal of Chest Surgery
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    • v.34 no.7
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    • pp.539-546
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    • 2001
  • Background: Pulmonary complications in immunocompromised patients are often fatal. Empirical treatment is usually applied based on the clinical and radiological findings because of the risk of the aggressive diagnostic procedures such as open lung biopsy. However, recent advancements in operative procedures and perioperative management has decreased the procedure-related risks. We have prospectively analyzed the risks and benefits of the early application of open lung biopsy in such patients. Material and Method: Forty-two consecutive immunocompromised patients with critical pulmonary complications were included from June, 1996 to December, 1999. The definition of the immunocompromised is as those with chemotherapy and/or other modality for hematologic disorders, with usage of immunosuppressive drug after transplantation, with usage of steroid for more than 1 month, and with primary immunodeficiency disorders. The indication of open lung biopsy was those with no significant improvement after a week of aggressive application of empirical treatment or with rapidly aggressive process. The underlying disease included hematologic disorder(31 patients), post-transplantation(3 patients), chemotherapy for solid tumor(2 patients), and others(6 patients). Operations were done through thoracotomy(conventional or mini-) or VATS.

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PRIMARY EXTRANODAL MARGINAL ZONE B-CELL LYMPHOMA OF MUCOSA-ASSOCIATED LYMPHOID TISSUE IN THE ORAL CAVITY : A CASE REPORT (구강 내에 발생한 원발성 점막관련 림프양 림프종의 치험례)

  • Son, Jang-Ho;Park, Su-Won;Choi, Byoung-Hwan;Cho, Yeong-Cheol;Sung, Iel-Young;Byun, Ki-Jeong
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.31 no.1
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    • pp.77-80
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    • 2009
  • Mucosa-associated lymphoid tissue(MALT) lymphoma is thought to originate from marginal zone B-cells. In the WHO classification, Extranodal marginal zone lymphoma of MALT is classified B-cell Non-Hodgkin lymphoma. Common sites of MALT lymphoma include stomach, lung and the ocular-adnexa. Although less common in other sites, it is the most common low-grade lymphoma of the breast, thyroid, bowel skin and soft tissue. No strong age or gender predominance exists in MALT lymphoma. Dissemination to other sites can occur. In the oral cavity, MALT lymphoma is rare. Herein, we present a case of intra-oral MALT lymphoma. 66 year-old woman without any background of immunodeficiency or autoimmune disease admitted department of oral & maxillofacial surgery in Ulsan university hospital for evaluation of long-standing mild upper lip swelling. The lesion was completely resected and biopsied. Histological and immunohistochemical stains(CD3, CD5, CD20, CD21, CK) findings were used to confirm the lesion. Bone marrow biopsy was done and no bone marrow involvement was found. She did not receive chemotherapy and radiotherapy after surgery. No recurrence has been noted in the 22 months to date.

First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus

  • Kim, Kang-in;Lee, Hanbyul;Jung, So Yoon;Lee, Dong Hwan;Lee, Jeongho
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.92-96
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    • 2018
  • Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.

An in-silico approach to design potential siRNAs against the ORF57 of Kaposi's sarcoma-associated herpesvirus

  • Rahman, Anisur;Gupta, Shipan Das;Rahman, Md. Anisur;Tamanna, Saheda
    • Genomics & Informatics
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    • v.19 no.4
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    • pp.47.1-47.12
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    • 2021
  • Kaposi's sarcoma-associated herpesvirus (KSHV) is one of the few human oncogenic viruses, which causes a variety of malignancies, including Kaposi's sarcoma, multicentric Castleman disease, and primary effusion lymphoma, particularly in human immunodeficiency virus patients. The currently available treatment options cannot always prevent the invasion and dissemination of this virus. In recent times, siRNA-based therapeutics are gaining prominence over conventional medications as siRNA can be designed to target almost any gene of interest. The ORF57 is a crucial regulatory protein for lytic gene expression of KSHV. Disruption of this gene translation will inevitably inhibit the replication of the virus in the host cell. Therefore, the ORF57 of KSHV could be a potential target for designing siRNA-based therapeutics. Considering both sequence preferences and target site accessibility, several online tools (i-SCORE Designer, Sfold web server) had been utilized to predict the siRNA guide strand against the ORF57. Subsequently, off-target filtration (BLAST), conservancy test (fuzznuc), and thermodynamics analysis (RNAcofold, RNAalifold, and RNA Structure web server) were also performed to select the most suitable siRNA sequences. Finally, two siRNAs were identified that passed all of the filtration phases and fulfilled the thermodynamic criteria. We hope that the siRNAs predicted in this study would be helpful for the development of new effective therapeutics against KSHV.

Behavioral Predictors Associated With COVID-19 Vaccination and Infection Among Men Who Have Sex With Men in Korea

  • Minsoo Jung
    • Journal of Preventive Medicine and Public Health
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    • v.57 no.1
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    • pp.28-36
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    • 2024
  • Objectives: This study investigated the impact of socioeconomic factors and sexual orientation-related attributes on the rates of coronavirus disease 2019 (COVID-19) vaccination and infection among men who have sex with men (MSM). Methods: A web-based survey, supported by the National Research Foundation of Korea, was conducted among paying members of the leading online portal for the lesbian, gay, bisexual, transgender, or queer and questioning (LGBTQ+) community in Korea. The study participants were MSM living in Korea (n=942). COVID-19 vaccination and infection were considered dependent variables, while sexual orientation-related characteristics and adherence to non-pharmacological intervention (NPI) practices served as primary independent variables. To ensure analytical precision, nested logistic regression analyses were employed. These were further refined by dividing respondents into 4 categories based on sexual orientation and disclosure (or "coming-out") status. Results: Among MSM, no definitive association was found between COVID-19 vaccination status and factors such as socioeconomic or sexual orientation-related attributes (with the latter including human immunodeficiency virus [HIV] status, sexual orientation, and disclosure experience). However, key determinants influencing COVID-19 infection were identified. Notably, people living with HIV (PLWH) exhibited a statistically significant predisposition towards COVID-19 infection. Furthermore, greater adherence to NPI practices among MSM corresponded to a lower likelihood of COVID-19 infection. Conclusions: This study underscores the high susceptibility to COVID-19 among PLWH within the LGBTQ+ community relative to their healthy MSM counterparts. Consequently, it is crucial to advocate for tailored preventive strategies, including robust NPIs, to protect these at-risk groups. Such measures are essential in reducing the disparities that may emerge in a post-COVID-19 environment.

Assessing COVID-19 Vulnerability Among HIV-positive Men Who Have Sex With Men in Korea: The Role of Vaccination and Sexual Behaviors

  • Minsoo Jung
    • Journal of Preventive Medicine and Public Health
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    • v.57 no.4
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    • pp.370-378
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    • 2024
  • Objectives: Comorbidities increase susceptibility to severe coronavirus disease 2019 (COVID-19) infections, but limited information has been published regarding human immunodeficiency virus (HIV) and COVID-19 co-infections. This study explored the relationships among socioeconomic characteristics, sexual behaviors, and COVID-19 infection rates among Korean men who have sex with men (MSM) who are also living with HIV. Methods: Data were collected through a web survey aimed at members of the largest gay portal site in Korea, supported by the National Research Foundation of Korea (n=1005). The primary independent variables included COVID-19-related vaccinations and sexual behaviors. The dependent variable was the incidence of COVID-19 infection among respondents during the pandemic. For statistical analysis, hierarchical multiple logistic regression was performed, controlling for potential confounding variables. Results: Model I indicated that older MSM were less likely to contract COVID-19 (adjusted odds ratio [aOR], 0.98; 95% confidence interval [CI], 0.96 to 0.99). Model II demonstrated that HIV-positive MSM were nearly twice as likely to be infected with COVID-19 compared to their HIV-negative counterparts (aOR, 1.97; 95% CI, 1.14 to 3.41). Furthermore, even after accounting for COVID-19 vaccination status in model III, HIV-positive MSM continued to show a higher risk of infection (aOR, 1.93; 95% CI, 1.12 to 3.35). Conclusions: The findings of this study indicate that HIV-positive MSM are at an increased risk of contracting COVID-19, even when their vaccination status is considered. Therefore, it is essential to prioritize the prevention of COVID-19 infections in HIV-positive individuals by administering appropriate antiretroviral therapy and ensuring adherence to public health guidelines.

The Protective Effects of IGF-1 on Different Subpopulations of DRG Neurons with Neurotoxicity Induced by gp120 and Dideoxycytidine In Vitro

  • Lu, Lin;Dong, Haixia;Liu, Guixiang;Yuan, Bin;Li, Yizhao;Liu, Huaxiang
    • Biomolecules & Therapeutics
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    • v.22 no.6
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    • pp.532-539
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    • 2014
  • Peripheral neuropathy induced by human immunodeficiency virus (HIV) infection and antiretroviral therapy is not only difficult to distinguish in clinical practice, but also difficult to relieve the pain symptoms by analgesics because of the severity of the disease at the later stage. Hence, to explore the mechanisms of HIV-related neuropathy and find new therapeutic options are particularly important for relieving neuropathic pain symptoms of the patients. In the present study, primary cultured embryonic rat dorsal root ganglion (DRG) neurons were used to determine the neurotoxic effects of HIV-gp120 protein and/or antiretroviral drug dideoxycytidine (ddC) and the therapeutic actions of insulin-like growth factor-1 (IGF-1) on gp120- or ddC-induced neurotoxicity. DRG neurons were exposed to gp120 (500 pmol/L), ddC ($50{\mu}mol/L$), gp120 (500 pmol/L) plus ddC ($50{\mu}mol/L$), gp120 (500 pmol/L) plus IGF-1 (20 nmol/L), ddC ($50{\mu}mol/L$) plus IGF-1 (20 nmol/L), gp120 (500 pmol/L) plus ddC ($50{\mu}mol/L$) plus IGF-1 (20 nmol/L), respectively, for 72 hours. The results showed that gp120 and/or ddC caused neurotoxicity of primary cultured DRG neurons. Interestingly, the severity of neurotoxicity induced by gp120 and ddC was different in different subpopulation of DRG neurons. gp120 mainly affected large diameter DRG neurons (> $25{\mu}m$), whereas ddC mainly affected small diameter DRG neurons (${\leq}25{\mu}m$). IGF-1 could reverse the neurotoxicity induced by gp120 and/or ddC on small, but not large, DRG neurons. These data provide new insights in elucidating the pathogenesis of HIV infection- or antiretroviral therapy-related peripheral neuropathy and facilitating the development of novel treatment strategies.

Related factors of the Tuberculosis as a primary cause among the HIV disease deaths (HIV병 사망자 중 결핵 사망 분율과 관련 요인)

  • Lee, Hye-Kwon;Na, Baeg-Ju;Chun, Sung-A;Park, Kyun-Ik
    • Journal of agricultural medicine and community health
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    • v.40 no.2
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    • pp.72-79
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    • 2015
  • Objectives: To identify the importance of preventing tuberculosis for HIV (Human Immunodeficiency Virus) infectees and to monitor their management of health, we investigated the proportion of HIV-TB (Tuberculosis) deaths among the HIV deaths and its related factors. Methods: Data for HIV deaths from 2002 to 2010 was acquired from Statistics Korea, after which the HIV deaths were reclassified into HIV-TB deaths or other deaths according to the KCD (Korean Classification of Diseases). We analyzed the proportion of HIV-TB deaths among HIV disease deaths and the relationship between HIV-TB deaths and related variables such as sex, age, educational level, marital status, etc. Results: There were 774 HIV deaths in South Korea between 2002 and 2010. TB was the main cause of death in 10.1% of all HIV deaths. The total proportion of HIV-TB deaths was 10.1% but its proportion reached 16.3% between 2005-2007 and then decreased to 4% in 2010. Also, the proportion of HIV-TB deaths was significantly high in the young age groups, but its proportion was significantly low in married groups and well educated groups (p<0.05). Conclusions: The result implies that the policy that takes care of HIV infectee regarding TB prevention has been getting systemized on a national scale. Also, HIV-TB deaths have been affected by social factors such as education and marriage status.

A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation (Btk 유전자 인트론 2 돌연변이에 의한 X연관 무감마글로불린혈증 1예)

  • Chung, Moon Jae;Jung, Ji Ye;Son, Ji-Young;Ku, Cheol Ryong;Park, Byung Hoon;Byun, Min Kwang;Moon, Ji Ae;Kim, Young Sam;Kim, Se Kyu;Chang, Joon;Kim, Sung Kyu;Shin, Dong Min;Park, Moo Suk
    • Tuberculosis and Respiratory Diseases
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    • v.65 no.3
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    • pp.207-211
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    • 2008
  • X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).