• Journal of the korean academy of Pediatric Dentistry
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• v.34 no.3
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• pp.468-472
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• 2007

The Wiskott-Aldrich Syndrome (WAS) is an inherited immunodeficiency caused by a variety of mutations in the gene encoding the WAS protein (WASp). First described in 1937 by Wiskott, the incidence of WAS has so far been estimated at 4 in 106 live births. The Wiskott-Aldrich Syndrome is an X-linked condition characterized by 1) an increased tendency to bleed caused by a reduced number of platelets, 2) recurrent bacterial, viral and fungal infections, and 3) eczema of the skin. The purpose of this report is to present cases highlighting the clinical features of the syndrome and the required considerations in the treatment of patients. The report consists of two particular cases: a 2-year-11-month-old boy seen for a routine oral examination prior to his bone marrow transplantation and a 2-year-6-month-old boy with herpes gingivostomatitis and teeth discoloration.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.50-54
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• 2020

Vici syndrome is a rare, autosomal recessive multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, immunodeficiency, and delayed development. We report the case of a 3-year-old boy diagnosed with Vici syndrome. He initially presented with hypotonia and sucking problem. Whole-exome sequencing identified novel compound heterozygous mutations, namely c.2254C>T (p.Gln752Ter) and c.5511-5518+2 del TATGCAAAGT in the EPG5 gene. The diagnostic challenges can be attributed to the diverse clinical manifestations. Thus, whole-exome sequencing is a useful diagnostic tool for the genetically and clinically heterogeneous Vici syndrome. This is the first Korean report of a patient with Vici syndrome.

• Biomedical Science Letters
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• v.5 no.1
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• pp.101-107
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• 1999

Bovine immunodeficiency virus (BIV) which was grouped into the Lentivirinae of family Retroviridae, was known to be causing many immunodeficiency syndromes among cows. The BIV was studied worldwide during last several years for its importance in cattle industries but nothing was reported in Korea until now Thus we initially tried to study the existence of BIV in cattle around the Daegu·Kyungpook area by PCR related molecular techniques. As a prerequisite investigation for detecting Korean-type BIV, we had focused our aim into BLV infected cows because the BLV infected cows tend to show BIV infection with 5％ ranges. Hence we randomly sampled fresh bloods from 248 cows and bulls near the Daegu·Kyungpook area and collected peripheral blood monocytes (PBMC) from the sample bloods. After extracting genomic DNA from the PBMC, we subjected it to PCR and Soluthern blot analysis for BIV/BLV detection. Overall, 66.9% (81/121) of the cow PBMC samples turned out to be BLV positive by PCR and the result was reconfirmed by Southern blot analysis. The value was two times higher than the previously reported results of BLV infection in Korea. The significant difference was mainly due to 1) applying highly specific methods for BLV detection such as PCR 2) that BLV was continuously spreaded in the Daegu Kyungpook area without any notice during last ten years. We also tested the BLV positive samples with the same techniques for BIV detection. And we found some BIV positives among the lot 3C samples by PCR, which had showed 100% BLV positive.

• Journal of Hospice and Palliative Care
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• v.20 no.3
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• pp.177-187
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• 2017

Purpose: From August 2017, hospice-palliative care (HPC) will be provided to patients with acquired immunodeficiency syndrome (AIDS), chronic obstructive pulmonary disease (COPD), and liver cirrhosis in Korea. To contribute to building a non-cancer (NC) hospice-palliative care model, NC specialists were interviewed regarding the goals, details, and provision methods of the model. Methods: Four physicians specializing in HPC of cancer patients formulated a semi-structured interview with questions extracted from literature review of 85 articles on NC HPC. Eleven NC disease specialists were interviewed, and their answers were analyzed according to the qualitative content analysis process. Results: The interviewees said as follows: It is difficult to define end-stage NC patients. HPC for cancer patients and that for NC patients share similar goals and content. However, emphasis should be placed on alleviating other physical symptoms and emotional care rather than pain control. Timing of the care provision should be when patients are diagnosed as "end stage". Special issues should be considered for each NC disease (e.g., use of anti-retroviral drugs for AIDS patients, oxygen supply for COPD patients suffering from dyspnea, liver transplantation for patients with liver cirrhosis) and education should be provided to healthcare professionals. NC patients tend to negatively perceive HPC, and the government's financial assistance is insufficient. Conclusion: It is necessary to define end-stage NC patients through in-depth discussion to minimize issues that will likely accompany the expansion of care recipients. This requires cooperation between medical staff caring for NC patients and HPC givers for cancer patients.

• Journal of Life Science
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• v.23 no.3
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• pp.347-354
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• 2013

Innate immunity is the ability to differentiate infectious agents from self. The innate immune system is comprised of a complicated network of recognition and effector molecules that act together to protect the host in the early stage of an infectious challenge. Mannose-binding lectin (MBL or mannose-binding protein, MBP) belongs to the family of $Ca^{2+}$-dependent lectins (C-type lectin with a collagen-like domain), which are considered an important component of innate immunity. While it is associated with increased risk and severity of infections and autoimmunity, the most frequent immuno-deficiency syndrome was reported to be low MBL level in blood. Deficiency of human MBL is caused by mutations in the coding region of the MBL gene. Rat homologue gene of human MBL gene was used to study functions of wild type and mutant MBL proteins. Although extensive studies have yielded the structural information of MBL, the functions of MBL, especially mutant MBL, still require investigation. We previously reported the cloning of rat wild-type MBL gene and the production of a truncated form of MBL protein and its antibody. Here, we present the cloning of mutant MBL cDNA in collagen-like domain (R40C, G42D, and G45E) using site-directed mutagenesis and differential behaviors of wild type and mutant MBL in cells. The major difference between wild type and mutant MBL was that while wild type MBL was secreted, mutant MBL was inhibited for secretion, retained in endoplasmic reticulum, and still functioned as a lectin.

• Journal of Hospice and Palliative Care
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• v.20 no.3
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• pp.159-166
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• 2017

According to the advance of antiretroviral regimen and the early treatment strategy, people living with human immunodeficiency virus (PLWH) are achieving the goal of virologic suppression and immune restoration. Most of them no more die of acquired immunodeficiency syndrome (AIDS) defining illnesses, and become older with chronic comorbidities such as cardiovascular, metabolic, hepatic, renal and neurological diseases. However some PLWH still visit hospitals as late presenters with very low CD4+ T cell counts, so that they suffer AIDS defining illnesses to die or experience severe neurological complications resulting in disabilities. Early palliative interventions are needed on the various symptoms of PLWH. Thus far chronic pains such as distal symmetric sensory polyneuropathies have been underevaluated. Active pain-relieving interventions are important to them. Recently we define end of life condition of human immunodeficiency virus (HIV) or eligibility to hospice care after adjusting current status of HIV treatment. Hospice teams should pay attention to the specific medical conditions, psychological needs, and social circumstances of PLWH. With just standard precautions as common infection control measures, general hospice cares can be provided to them like to other hospices subjects. For giving PLWH opportunities to have the end of life with value and dignity, hospice multidisciplinary team should intervene them early and aggressively. Now we need more clinical experiences and institutional improvements.

• Journal of the Korean Burn Society
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• v.22 no.2
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• pp.21-24
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• 2019

Incidence of low-temperature contact burn by use of an electric pad is increased recently, especially in depressed sensory. Acquired immune deficiency syndrome patient using antiretroviral agent suffered with sensory depression as side effect. There are many limitations in wounds treatment of these patients. These patients are vulnerable to infection due to their weak immunity, so it is necessary to keep them in a state of isolation when a wound occurs. We report a case of a third degree burn by electric pad with a surface area of approximately 5% of the body surface of a patient who underwent a sensory depression, which is a side effect of antiretroviral drugs used for treatment in patients with AIDS. In this regard, we report the case with literature review, which is safely recovered using negative-pressure wound therapy and split-thickness skin graft.

• Pediatric Infection and Vaccine
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• v.30 no.3
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• pp.173-179
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• 2023

Complete DiGeorge syndrome (cDGS) refers to DGS with profound T cell deficiency. Herein, we present the case of an infant with cDGS suffering from refractory cytomegalovirus (CMV) infection and who was treated with CD45RA+ depleted lymphocyte infusion. The patient was diagnosed with cDGS by fluorescence in situ hybridization which verified 22q11.2 deletion and as well as by the observed profound T cell deficiency (CD3+ T cells 69/μL, CD4+ T cells 7/μL). On the 45th day of age, CMV viremia was first detected with a plasma viral load (VL) of 120,000 IU/mL. Ganciclovir treatment effectively reduced VL post 56 days of treatment; however, VL subsequently rebounded. A CMV UL97 phosphotransferase M460V mutation conferring ganciclovir resistance emerged and foscarnet was incorporated. Despite this, high titers of CMV viremia (VL 2,820,000 IU/mL) and CMV retinitis were complicated. To restore T cell immunity and treat refractory CMV infection, CD45RA+ depleted CMV-specific lymphocytes from the patient's father were infused twice on the 196th and 207th days after birth. After receiving the second infusion, a decline in CMV VL was observed, with a decrease to 87,100 IU/mL by the tenth day following infusion, despite the failure in maintaining T cell increase. The patient died of Pneumocystis jirovecii pneumonia and Elizabethkingia meningoseptica sepsis on the 222nd day after birth. CD45RA+ depleted lymphocyte infusion may be a therapeutic option for refractory CMV disease in cDGS patients.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.592-597
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• 2010

Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene ($stat3$) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant $Staphylococcus$ $aureus$) and $Pseudomonas$ $aeruginosa$. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count ($750/{\mu}L$) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.

• Korean Journal of Psychosomatic Medicine
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• v.22 no.1
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• pp.31-39
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• 2014

Objectives : This study aimed to investigate the psychiatric status of HIV-infected/AIDS inpatients in a general hospital over the past 2.5 years. Methods : A retrospective chart review was conducted of psychiatric consultations performed between January 1, 2011, and July 30, 2013. The records of 97 HIV-infected/AIDS patients were analyzed. These included a total of 282 psychiatric consultations. Results : Of the 97 patients, 91(93.8%) were male, the mean age was 48 years, and mean number of consultations was 2.8. Depressed mood was reported in 102 consultations(23.8%), insomnia in 60(14.0%), and anxiety in 31(7.2%). Psychiatric disorders diagnosed on initial consultation included depressive disorder(37 patients ; 37.0%), cognitive disorder(11 ; 11.0%), and delirium(9 ; 9.0%). Recommended psychotropic medication included Lorazepam(99 ; 17.2%), Escitalopram(90 ; 15.7%), and Quetiapine(84 ; 14.6%). Conclusions : The main complaints of HIV-infected/AIDS patients were depressed mood, insomnia, and suicidal ideation(including suicide attempts). In total, 85(93.3%) patients of those consulted were diagnosed as meeting the criteria for a psychiatric condition. However, considering that only 16.9% of patients consulted received follow-up treatment, longitudinal research is needed to examine the influence of psychiatric disorders on the transmission of HIV-infection/AIDS, as well as on prognosis and treatment adherence.