• Title/Summary/Keyword: Immunodeficiency

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Peripheral Neuropathy Associated with Human Immunodeficiency Virus Infection (사람면역결핍바이러스 감염과 연관된 말초신경병증)

  • Lee, Min Hwan;Lim, Young-Min;Pyun, So Young;Kim, Jimin;Kim, Kwang-Kuk
    • Annals of Clinical Neurophysiology
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    • v.14 no.1
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    • pp.29-35
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    • 2012
  • Background: Peripheral neuropathy is the most frequent neurological complication in human immunodeficiency virus (HIV) infection, related with diverse etiologies including inflammation, opportunistic infection and side effects of medications. The purpose of the present study was to evaluate characteristics of HIV associated neuropathy according to the stage of HIV infection. Methods: In reviewing the medical records of HIV patients who underwent electrodiagnostic studies between 1997 and 2011, total 11 patients (all males; median age, 47 years; range, 28-71 years) with comorbid neuropathy were enrolled. Stage of HIV infection was categorized according to the Centers for Disease Control and Prevention (CDC) criteria. Classification of peripheral neuropathy was based on clinical and electrophysiological features. Results: Distal symmetric polyneuropathy was observed in 8 patients (72.7%), inflammatory demyelinating polyneuropathy in 2 patients (18.1%), and polyradiculopathy in 1 patient (9.1%). Median CD4+ T cell count was $123/mm^3$ (range, $8-540/mm^3$) and 7 patients (60%) had the most advanced HIV disease stage (CDC-C3). There was no neuropathy caused by CMV infection. Conclusions: Distal symmetric polyneuropathy was the most common type of neuropathy in HIV infection, but various forms of neuropathy such as inflammatory demyelinating polyneuropathy and polyradiculopathy were also present. HIV associated neuropathy is more frequently associated with advancing immunosuppression, although it can occur in all stages of HIV infection.

The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life

  • Guana, Riccardo;Garofano, Salvatore;Teruzzi, Elisabetta;Vinardi, Simona;Carbonaro, Giulia;Cerrina, Alessia;Morra, Isabella;Montin, Davide;Mussa, Alessandro;Schleef, Jurgen
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.17 no.4
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    • pp.257-262
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    • 2014
  • Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastro-intestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion ($c.313{\Delta}TATC$; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.

Removal and Inactivation of Human Immunodeficiency Virus(HIV-1) by Cold Ethanol Fractionation and Pasteurization during the Manufacturing of Albumin and Immunoglobulins from Human Plasma

  • Kim, In-Seop;Eo, Ho-Gueon;Park, Chan-Woo;Chong E. Chang;Lee, Soungmin
    • Biotechnology and Bioprocess Engineering:BBE
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    • v.6 no.1
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    • pp.25-30
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    • 2001
  • Viral safety is a prerequisite for manufacturing clinical albumin and immunoglobulins from human plasma pools. This study was designed to evaluate the efficacy of cold ethanol fractionation and pasteurization (60$\^{C}$ heat treatment for 10h) for the removal/inactivation of human immunodeficiency virus type 1 (HIV-1) during the manufacturing of albumin and immunoglobulins. Samples from the relevant stages of the production process were spiked with HIV-1, and the amount of virus in each fraction was quantified by the 50% tissue culture infectious dose(TCID(sub)50). Both fraction IV fractionation and pasteurization steps during albumin processing were robust and effective in inactivating HIV-1, titers of which were reduced from an initial 8.5 log(sub)10 TCID(sub)50 to undetectable levels. The log reduction factors achieved were $\geq$ 4.5 and $\geq$ 6.5, respectively. In addition, fraction III fractionation and pasteurization during immunoglobulins processing were robust and effective in eliminating HIV-1. HIV-1 titers were reduced from an initial 7.3 log(sub)10 TCID(sub)50 to undetectable levels. The log reduction factors achieved in this case were $\geq$ 4.9 and $\geq$ 5.3, respectively. These results indicate that the process investigated for the production of albumin and immunoglobulins have sufficient HIV-1 reducing capacity to achieve a high margin of safety.

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Effect of Korean Red Ginseng intake on the survival duration of human immunodeficiency virus type 1 patients

  • Cho, Young-Keol;Kim, Jung-Eun
    • Journal of Ginseng Research
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    • v.41 no.2
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    • pp.222-226
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    • 2017
  • Background: Long-term ginseng intake can increase longevity in healthy individuals. Here, we examined if long-term treatment with Panax ginseng Meyer (Korean Red Ginseng, KRG) can also enhance survival duration (SD) in patients with human immunodeficiency virus type 1 (HIV-1) infection. Methods: We retrospectively analyzed 252 HIV-1 patients diagnosed from 1986 to 2013 prior to the initiation of antiretroviral therapy. Overall, 162 patients were treated with KRG ($3,947{\pm}4,943g$) for $86{\pm}63$ mo. The effects of KRG on SD were analyzed according to the KRG intake level and the length of the follow-up period. Results: There were significant correlations between the total amount of KRG and SD in the KRG intake group (r = 0.64, p < 0.0001) as well as between total amount of KRG and mean annual decrease in $CD4^+$ T-cell count in all 252 patients (r = -0.17, p < 0.01). The annual decrease in $CD4^+$ T-cell count (change in $cells/{\mu}L$) was significantly slower in KRG-treated patients than in patients receiving no KRG ($48{\pm}40$ vs. $106{\pm}162$; p < 0.001). The SD (in months) was also significantly longer in the KRG group than in the no-KRG group ($101{\pm}64$ vs. $59{\pm}40$, p < 0.01). Conclusion: KRG prolongs survival in HIV-1 patients, possibly by slowing the decrease in $CD4^+$ T-cell count.

A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

  • Son, Yu Yun;Lee, Byeonghyeon;Suh, Chae-Ri;Nam, Hyo-Kyoung;Lee, Jung Hwa;Hong, Young Sook;Lee, Joo Won
    • Journal of Genetic Medicine
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    • v.12 no.1
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    • pp.57-60
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    • 2015
  • CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

Comparison of Interferon-γ Release Assays and the Tuberculin Skin Test for Diagnosis of Tuberculosis in Human Immunodeficiency Virus: A Systematic Review

  • Overton, Kristen;Varma, Rick;Post, Jeffrey J.
    • Tuberculosis and Respiratory Diseases
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    • v.81 no.1
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    • pp.59-72
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    • 2018
  • Background: It remains uncertain if $interferon-{\gamma}$ release assays (IGRAs) are superior to the tuberculin skin test (TST) for the diagnosis of active tuberculosis (TB) or latent tuberculosis infection (LTBI) in immunosuppressed populations including people with human immunodeficiency virus (HIV) infection. The purpose of this study was to systematically review the performance of IGRAs and the TST in people with HIV with active TB or LTBI in low and high prevalence TB countries. Methods: We searched the MEDLINE database from 1966 through to January 2017 for studies that compared results of the TST with either the commercial QuantiFERON-TB Gold in Tube (QFTGT) assay or previous assay versions, the T-SPOT.TB assay or in-house IGRAs. Data were summarized by TB prevalence. Tests for concordance and differences in proportions were undertaken as appropriate. The variation in study methodology was appraised. Results: Thirty-two studies including 4,856 HIV subjects met the search criteria. Fourteen studies compared the tests in subjects with LTBI in low TB prevalence settings. The QFTGT had a similar rate of reactivity to the TST, although the first-generation version of that assay was reactive more commonly. IGRAs were more frequently positive than the TST in HIV infected subjects with active TB. There was considerable study methodology and population heterogeneity, and generally low concordance between tests. Both the TST and IGRAs were affected by CD4 T-cell immunodeficiency. Conclusion: Our review of comparative data does not provide robust evidence to support the assertion that the IGRAs are superior to the TST when used in HIV infected subjects to diagnose either active TB or LTBI.

Systematic review of literature and analysis of big data from the National Health Insurance System on primary immunodeficiencies in Korea

  • Son, Sohee;Kang, Ji-Man;Hahn, Younsoo;Ahn, Kangmo;Kim, Yae-Jean
    • Clinical and Experimental Pediatrics
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    • v.64 no.4
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    • pp.141-148
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    • 2021
  • There are very scant data on the epidemiology of primary immunodeficiency diseases (PIDs) in Korea. Here we attempted to estimate the PID epidemiology and disease burden in Korea. A systematic review was performed of studies retrieved from the PubMed, KoreaMed, and Google Scholar databases. Studies on PIDs published in Korean or English between January 2001 and November 2018 were analyzed. The number of PID patients and the healthcare costs were estimated from Health Insurance Review and Assessment Service (HIRA) Korea data for 2017. A total of 398 PID patients were identified from 101 reports. Immunodeficiencies affecting cellular and humoral immunity were reported in 11 patients, combined immunodeficiency with associated or syndromic features in 40, predominantly antibody deficiencies in 144, diseases of immune dysregulation in 58, congenital defects of phagocytes in 104, defects in the intrinsic and innate immunity in 1, auto-inflammatory disorders in 4, complement deficiencies in 36, and phenocopies of PID in none. From the HIRA reimbursement data, a total of 1,162 outpatients and 306 inpatients were treated for 8,166 and 6,149 days, respectively. In addition, reimbursement was requested for 8,200 outpatient and 1,090 inpatient cases and $1,924,000 and $4,715,000 were reimbursed in 2017, respectively. This study systematically reviewed published studies on PID and analyzed the national open data system of the HIRA to estimate the disease burden of PID, for the first time in Korea.

Vulnerability to human immunodeficiency virus infection and associated factors among married women in northwest Ethiopia: a cross-sectional study

  • Asiya Hussien;Abdissa Boka;Asnake Fantu
    • Women's Health Nursing
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    • v.28 no.4
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    • pp.307-316
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    • 2022
  • Purpose: This study investigated the vulnerability to human immunodeficiency virus (HIV) infection and associated factors among married women in northwest Ethiopia. Methods: A community-based cross-sectional survey (n=657) was conducted from April 1 to 15, 2020, in Metema District, northwest Ethiopia, in four randomly selected kebele administrations (the lowest level of local government). The inclusion criteria were married women aged ≥18 years residing with their husbands. Logistic regression analysis was conducted to identify factors associated with married women's vulnerability to HIV infection. Results: Participants were on average 33.70±9.50 years and nearly one-fourth (n=148, 22.5%) were identified as vulnerable to HIV infection (i.e., experienced sexually transmitted disease symptoms or an extramarital affair of either spouse within the past 12 months). Only 18.9% reported sexual communication with their husband. Respondents who did not discuss the risk of HIV infection with their husbands had fivefold odds of vulnerability (adjusted odds ratio [AOR], 5.02; 95% confidence interval [CI], 1.43-17.5). Those who did not have premarital sex (AOR, 0.20; 95% CI, 0.05-0.77) had no worries about HIV infection (AOR, 0.27; 95% CI, 0.08-0.94), sufficient income (AOR, 0.56; 95% CI, 0.16-0.86), and less than four children (AOR, 0.69; 95% CI, 0.50-0.97) had decreased odds of being vulnerable to HIV than their counterparts. Conclusion: Not discussing risk of HIV infection with husband was a major factor of vulnerability to HIV infection as was premarital sex, worry about HIV, income, and number of children. Measures to strengthen couple's sexual communication and support economical stability is important for decreasing HIV vulnerability.

A Peer-support Mini-counseling Model to Improve Treatment in HIV-positive Pregnant Women in Kupang City, East Nusa Tenggara, Indonesia

  • Artha Camellia;Plamularsih Swandari;Gusni Rahma;Tuti Parwati Merati;I Made Bakta;Dyah Pradnyaparamita Duarsa
    • Journal of Preventive Medicine and Public Health
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    • v.56 no.3
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    • pp.238-247
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    • 2023
  • Objectives: Low adherence to antiretroviral (ARV) therapy in pregnant women with human immunodeficiency virus (HIV) increases the risk of virus transmission from mother to newborn. Increasing mothers' knowledge and motivation to access treatment has been identified as a critical factor in prevention. Therefore, this research aimed to explore barriers and enablers in accessing HIV care and treatment services. Methods: This research was the first phase of a mixed-method analysis conducted in Kupang, a remote city in East Nusa Tenggara Province, Indonesia. Samples were taken by purposive sampling of 17 people interviewed, consisting of 6 mothers with HIV, 5 peer facilitators, and 6 health workers. Data were collected through semi-structured interviews, focus group discussions, observations, and document review. Inductive thematic analysis was also performed. The existing data were grouped into several themes, then relationships and linkages were drawn from each group of informants. Results: Barriers to accessing care and treatment were lack of knowledge about the benefits of ARV; stigma from within and the surrounding environment; difficulty in accessing services due to distance, time, and cost; completeness of administration; drugs' side effects; and the quality of health workers and HIV services. Conclusions: There was a need for a structured and integrated model of peer support to improve ARV uptake and treatment in pregnant women with HIV. This research identified needs including mini-counseling sessions designed to address psychosocial barriers as an integrated approach to support antenatal care that can effectively assist HIV-positive pregnant women in improving treatment adherence.

Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations

  • Murat Cakir ;Nalan Yakici ;Elif Sag ;Gulay Kaya ;Aysenur Bahadir;Alper Han Cebi ;Fazil Orhan
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.26 no.4
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    • pp.201-212
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    • 2023
  • Purpose: The gastrointestinal system is the most commonly affected organ, followed by the lungs, in patients with primary immunodeficiency disease (PID). Hence, it is common for children with PIDs to present with gastrointestinal symptoms. We aimed to analyze the clinical and histopathological findings of patients who were initially admitted to pediatric gastroenterology/hepatology clinics and subsequently diagnosed with PIDs to identify the clinical clues for PIDs. Methods: The demographic, laboratory, and histopathological findings, treatment modality, and outcomes of patients initially admitted to the pediatric gastroenterology/hepatology unit and subsequently diagnosed with PIDs were recorded. Results: The study included 24 patients (58.3% male; median age [range]: 29 [0.5-204] months). Common clinical presentations included chronic diarrhea (n=8), colitis (n=6), acute hepatitis (n=4), and acute liver failure (n=2). The association of autoimmune diseases, development of malignant diseases, and severe progression of viral diseases was observed in 20.8%, 8.3%, and 16.6% of the patients, respectively. Antibody deficiency was predominantly diagnosed in 29.2% of patients, combined immunodeficiency in 20.8%, immune dysregulation in 12.5%, defects in intrinsic and innate immunity in 4.2%, autoinflammatory disorders in 8.3%, and congenital defects of phagocytes in 4.2%. Five patients remained unclassified (20.8%). Conclusion: Patients with PIDs may initially experience gastrointestinal or liver problems. It is recommended that the association of autoimmune or malignant diseases or severe progression of viral diseases provide pediatric gastroenterologists some suspicion of PIDs. After screening using basic laboratory tests, genetic analysis is mandatory for a definitive diagnosis.