• Journal of Genetic Medicine
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• 제19권2호
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• pp.57-62
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• 2022

Systemic autoinflammatory diseases (SAIDs) are characterized by unprovoked inflammatory episodes such as recurrent/periodic fever, serositis, skin lesions, abdominal symptoms, arthritis/arthralgia, and central nervous system involvement. Genetic diagnosis of SAIDs has been challenging because disease manifestations overlap among themselves and with other immunological disease categories, such as infection and autoimmune diseases. However, the advent of next-generation sequencing (NGS) technologies and expanding knowledge about the innate immunity and inflammation have made the routine genetic diagnosis of SAIDs possible. Here, we review the recurrent/periodic fevers, other recently identified autoinflammatory diseases, and type I interferonopathies, and discuss the clinical usefulness of NGS targeted sequencing for SAIDs, and recent advance of understandings for this heterogeneous disease group as for underlying primary immunodeficiency.

• Clinical and Experimental Pediatrics
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• 제64권4호
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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.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제26권4호
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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.

• IMMUNE NETWORK
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• 제22권4호
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• pp.30.1-30.3
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• 2022

• Pediatric Infection and Vaccine
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• 제27권3호
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• pp.190-197
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• 2020

소아에서 후두기관지염이 진균에 의해 발생하는 경우는 매우 드물고 주로 선행 요인이 있는 환자에 보고된다. 또한, Aspergillus 감염에 의한 후두기관지염은 초기에 무증상이거나 가슴 X선 사진에서 특이점이 없는 경우가 많아 조기 진단이 어렵다. 저자는 피부증상과 비감염성 발열을 조절하기 위해 장기간 저용량 스테로이드를 사용했던 복용력이 있는 일차성 면역 결핍 질환이 의심되는 환자에서 점진적인 호흡 부전을 보였고 가막성 아르페르길루스증(Pseudomembranous aspergillosis)에 의한 후두기관지염으로 밝혀진 사례를 보고하여 Aspergillus 후두기관지염의 고위험 환자군에서 조기 진단을 통한 치료의 중요성을 알리고자 한다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제4권2호
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• pp.243-248
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• 2001

저자들은 생후 2개월부터 지속되는 만성 설사를 주소로 내원한 환아에서 면역글로불린 정량 검사상 IgA의 결핍과 함께 $IgG_2$ 및 $IgG_4$ 결핍이 동반되어 있고 영아기에 빈번한 설사와 감염을 동반한 증례를 경험하였기에 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제64권10호
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• pp.504-510
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• 2021

Population screening of newborns is an extremely important and informative diagnostic approach that allows early identification of babies who are predisposed to the development of a number of serious diseases. Some of these diseases are known and have effective treatment methods. Neonatal screening enables the early diagnosis and subsequent timely initiation of therapy. This helps to prevent serious complications and reduce the percentage of disability and deaths among newborns and young children. Primary immunodeficiency diseases and primary immunodeficiency syndrome (PIDS) are a heterogeneous group of diseases and conditions based on impaired immune system function associated with developmental defects and characterized by various combinations of recurrent infections, development of autoimmune and lymphoproliferative syndromes (genetic defects in apoptosis, gene mutation Fas receptor or ligand), granulomatous process, and malignant neoplasms. Most of these diseases manifest in infancy and lead to serious illness, disability, and high mortality rates. Until recently, it was impossible to identify children with PIDS before the onset of the first clinical symptoms, which are usually accompanied by complications in the form of severe coinfections of a viral-bacterial-fungal etiology. Modern advances in medical laboratory technology have allowed the identification of children with severe PIDS, manifested by T- and/or B-cell lymphopenia and other disorders of the immune system. This review discusses the main existing strategies and directions used in PIDS screening programs for newborns, including approaches to screening based on excision of T-cell receptors and kappa-recombination excision circles, as well as the potential role and place of next-generation sequencing technology to increase the diagnostic accuracy of these diseases.

• 대한약학회:학술대회논문집
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• 대한약학회 2002년도 Proceedings of the Convention of the Pharmaceutical Society of Korea Vol.2
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• pp.155-160
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• 2002

A series of modified oligonucleotides containing a phosphorothioate (P=S) backbone and a six-membered azasugar (6-AZS) as a sugar substitute in a nucleotide were synthesized and tested for their ability to inhibit the human immunodeficiency virus type I(HIV-l) in vitro without the aid of any transfecting agents. While P=S oligonucleotides with natural nucleotides had little anti-HIV-l activity, the six-membered azasugar nucleotide (6-AZN)-containing P=S oligonucleotides (AZPSONs) potently inhibited the HIV-l/SHIV replication and syncytium formation (ECso = 0.02-0.2 /lM) without cytotoxicity up to 100 /lM. DBM-2198, the most effective in anti-HIV-l activity among the AZPSONs, consists of random sequence and five 6¬AZNs evenly distributed in 18 nucleotides. DBM-2198 showed strong antiviral activity against, not only laboratory strains, but also primary isolates and even drug-resistant strains of HIV-I. DBM-2198 was much more effective than ddI or ddC in its anti-HIV-l activity in vitro. Particularly noteworthy is that the anti-HIV-l activity of DBM-2198 was better than that of AZT with respect to its long-lasting efficacy after a single treatment. Nevertheless, the antiviral activity of the AZPSONs was very specific to HIV-I. Poliovirus, or even simian immunodeficiency virus (SIV), was not inhibited by the AZPSONs. Taken together, our results strongly suggest that AZPSON can be used as a safe and effective AIDS-therapeutic drug against a broad spectrum of HIV -1 strains.

• Journal of Microbiology
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• 제41권4호
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• pp.300-305
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• 2003

Intracellular expression of RNA decoys, such as TAR or RRE decoy, has been previously shown to protect immune cells from human immunodeficiency virus type 1 (HIV-1) replication by inhibiting the binding of the HIV-1 regulatory protein to the authentic HIV RNA sequence. However, HIV-1 challenge experiments of primary human T cells, which express the RNA decoy, demonstrated that the cells were only transiently protected, and hence, more improved protocols for HIV-1 inhibition with the RNA decoys need to be developed. In this report, in order to develop a more effective RNA decoy, we analyzed and compared the ability of a series of RNA decoy derivatives in inhibiting HIV-1 replication in CEM cells. Using an improved tRNA cassette to express high levels of RNA decoy transcripts in cells, we found that co-expression of both TAR and RRE decoys, in the form of an aligned sequence in a single transcription cassette, much more potently blocked cells from HIV-1 than the expression of only one kind of RNA decoy. This observation will have an important implication for experiments involving optimization of clinical applications in RNA decoy-based gene therapy against HIV-1.

• Journal of Korean Neurosurgical Society
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• 제29권11호
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• pp.1514-1518
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• 2000

Aspergillosis is an uncommon form of fungal infection of the central nervous system in immunocompetent patient, especially those involving the pituitary gland. Several cases of pituitary aspergillosis have been reported, but most of them are directly invaded from aspergillosis of sphenoid sinus. In the present case, a woman with primary pituitary aspergillosis had neither evidence of infection of the sphenoid sinus nor immunodeficiency. The patient underwent a transsphenoidal surgery for a presumed pituitary tumor. Histopathology demonstrated typical findings of aspergillosis. Postoperatively, amphotericin-B was administered and Gallium-67 scan was performed. We describe a case of primary pituitary aspergillosis mimicking pituitary tumor.